id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source e9bf05eb-caf4-4112-80d0-5c5396724322 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0715586-2554-495a-bb7e-003590a83848 CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ca8775-14d5-44b9-be0e-be74024d8136 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e4a61e6-5e87-4ead-913b-8358af832f5c CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f79b11-1941-440f-8695-10aba6213df5 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 924acb2c-fb1d-4567-b513-e92ade4c27d7 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972bea35-f173-4045-be01-efb2efdd46bc CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d48daa5d-0254-4b4e-a31e-d60c7ceab219 CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cbfff7-0b5b-4f22-abd0-df0c96953759 CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68abeeeb-8751-43f9-81ab-4f7cbf750da4 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a9f492-02ec-4831-bd34-4443be05513e CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ea4b3ba-dd86-4bb5-a7de-5034255fb14d CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5e6f21-8a90-4ade-a2ca-ede061e8d08d CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e24f365c-919d-4b49-a5fd-10a44638011d CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de3c44f-4421-44ec-afcd-d9d652853745 CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7028011c-878d-4c7a-b7cf-08b8558e1229 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552b7b5d-6665-4cc9-9aa8-6789199da8c7 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c9eadf1-59b8-4413-bb96-1c0fb4a2924e CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe345e1-0482-406f-86de-3bd121e6045b CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9290a61d-38cf-48a7-bde9-84589a071081 CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25645cc7-de88-4309-b872-763aff0f567d CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16e0a7b1-e342-4ff0-8816-f2aeba3c7d90 CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6b431ec-442b-4bb4-a6dc-e4c8ee4d5a14 CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e911162d-45d8-4c55-9bcb-a5efd197688c CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae6a2a5-917d-4504-aae6-d044e7266066 CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f04fd1c-d4f2-4a59-9715-33da6a985218 CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b91f8e7-06fd-4802-b8ca-a016ffdb842d CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51b4d7cd-9d9a-4cf1-a0ba-e915bbe848b5 CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938ab93b-95ca-433d-b7b6-0750117fe081 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e4f7b06-ada5-4382-b47e-f7fc097b928b CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae57a2fe-ae1d-4f5a-b2e3-52379d223063 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96fa03b3-8fe9-48b8-84e2-bc44cc140925 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a330eb-efd2-4a74-bade-eb60064d010f CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59970e0e-15b2-494a-9558-7cb7976f7455 CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15ab438-3cb3-4fea-91bd-a98726d522b5 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ae2933f-fc7d-4322-b0f0-cab638ee3e5c CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af19282f-6ad2-4822-bde9-0581f43609b5 CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4681468c-456d-40d1-96d4-f466e0f1b440 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53148585-ea63-4eba-b257-3b25e4633e17 CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c8a6717-254d-4527-885b-d336cf493052 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11208f2-8dfb-448d-b7a7-b955a6ec4315 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2f83cd9-10af-4162-9589-870ec6d3b099 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4eab43-7805-42a1-b53f-50a1e36227ea CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c41b9e1a-4a5c-4837-a6a4-b69a952358b4 CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc4f106-dcb1-4f2c-8493-5914c44256e6 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ca670c3-2a77-41ff-a50f-ea96235641d9 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e562e42-2054-496a-af0c-1387d84b71fe CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7ebc63e-c433-429e-b6d8-f918c6f500a9 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45fbcd87-0101-454e-9268-8e9bea92791d CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 777f6668-6507-4f9a-8bf9-bd60b502e8f1 CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ad76b4-4532-450a-8d6d-98b3a8695e53 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e03e15c-1dd8-4ac3-86ea-84eae3d19e35 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0530c224-299a-45c0-b396-c8255f2cbd5a CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67370f83-7945-4406-8854-cb20f6ba2675 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f2e53e-c218-415f-abda-53aeaed992e7 CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef62dea2-6c66-4930-aba8-e4823993a12d CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd56c4a5-5f3e-46d2-93c6-7dab183e8dfd CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc2f3f97-cb4e-4ca0-a2d9-e4746dfc4b5b CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74aec9a9-4a07-4a87-8502-cb669b444053 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31205392-75d8-4bb8-8a2a-611ca17ccd00 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86710116-1d68-4826-87af-667196ad3be3 CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4b795b8-52ed-4f4f-9154-41738e1d20eb CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38237ece-2ea3-4f49-8fc8-7ddc8abf7fa8 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bfc5d55-8f3f-4a71-9807-dfe0e285b629 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1937eb0-c6db-4693-b171-c6db908e45ea CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cab2b68e-e416-4711-8908-5465de71acc3 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e146e4d-9111-490b-951d-c7199fdcb70c CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec254914-6c24-4d6c-95aa-1490ad21d750 CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4727e4-33ca-4c0b-87c4-046f9fd072b7 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3eeadafc-3a5f-4ede-8415-057ce207362a CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce26aa33-c8d6-4db4-9cee-5ca6fbd15416 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c526ad54-a80e-476f-b0f8-a429c0e77f34 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2505c8ea-ba4b-4292-a14a-fb6afa703eed CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7469d572-b268-4774-9a10-5d643750157f CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b4a6e5-748b-4ebd-9b11-f67de5927132 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 794ac2bd-9917-4ad9-98e1-ff08f18ca642 CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197e0a2a-192b-4f6f-bd7e-aaece5eb8360 CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b007dd3-45a4-4189-b09f-2116aca63c61 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805365d5-b700-45af-a9e1-50d81777dc17 CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0fb0943-3044-4ba2-bb5b-9a7aa6533d50 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89446590-03f9-4cee-bfc0-46627d2be69a CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d383b20-7c14-4c21-af93-2176e20dbc8c CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8cc921a-1c47-4651-b8d9-1cc1be80308a CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de19c07f-6809-473c-983c-42306c973fa0 CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a5caf6-ee21-439e-8380-a095ff038fff CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8d8043f-e3bf-47f1-939d-b37cc02e6ded CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf06f3f-9df5-4d1c-ad06-99b0edbab221 CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6ea51ee-8e05-45c4-b275-15a4c96e527d CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa0ee65-cb92-4fb6-964b-bcdd7f250ec4 CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72612b5e-d9dc-453f-9df1-364583014bc4 CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed3ff3d-b411-4e12-a659-f9b46ffdb5c7 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bee8efc-06fc-42eb-af9f-5fa3c8274603 CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e9b282-39e5-40b8-9d7a-d46230f37269 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5419ba08-5dd1-4cc8-9eb1-e81d43b01b7f CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66043a7a-4541-450c-b617-d766c2ed4dcd CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa80f9d7-a9ad-46a3-89d4-b426a607a23a CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b05e53-357d-4119-b3a7-1b56e515c03b CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af2b2ceb-89fc-4cb1-9787-1494fa25f60f CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed6ae73-fd83-4e56-8bae-33d191b7da6a CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6adb9d7-29fc-43b9-84fe-72c8f8590279 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42f5dab-d5b5-4690-bc2c-ba6e36ce0b98 CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8db821d1-a043-4213-a934-c53a97b30507 CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da9a75b-94b6-4c05-8485-18a70f320303 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3200294-9507-4a5a-8339-a443ef8d0e9b CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab33395a-abed-4449-b15b-a5fda83cba2f CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d3d43f5-347c-4035-b0e0-5d5b44dd24cc CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec9d49c-960f-413d-844e-7fceb0da2b9e CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59219bf5-59a2-4d0d-9179-405db10f8504 CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9127cfd-2e82-447e-8df5-fa73bee4ceb2 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1049a91e-8c49-4fda-8fba-4708004c18ec CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b0446e6-b00b-4d3a-82f4-3d38f27e1317 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd65aeb1-ad74-4328-85d1-527ba19eae01 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e495f3f9-2806-47ee-846c-9de445c2ca2c CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b7bd4e8-f5ae-4d64-849b-3856158290f3 CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6311b758-d63d-4861-a41c-d3738b1a6bb9 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15335706-bb87-4601-b9bd-6afb0e52096e CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277c320e-01cc-495c-9075-0774065de13a CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e10c756-2dbd-44dc-adaa-eb01886f8936 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c858eb57-abb1-421d-b845-9d8d3893f65e CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4020ebfb-1955-4c6d-8c36-5bf716c3da3c CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b81d2f-03dc-49cb-97d6-f9eb0565c3e8 CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen acd3a407-d42e-46b3-90e5-07ee6399192b CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653b4a1d-2ebc-4cb5-a5ce-f530eb89bed3 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97e301a5-d81f-471f-8a0e-a061feda73f0 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798622f5-a524-48ad-8ab5-1561f7816f64 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1fd0420-708d-4499-aef7-8a4443d72dcc CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17d489c-5e62-4556-b41b-4a355a89dd57 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e01fd3ef-1538-472d-98e5-0cb0c320db17 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1754816a-fed7-4a45-b3ee-8298392cad70 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65f0632f-c364-4ab5-945f-b41b83cf767c CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5c07a6-2a73-4179-80b7-5f5cd5fb11bb CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c9910ca-e955-480c-8be9-3edd28d02ccf CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf76cfa-8e73-4476-954e-66687b5f219b CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d73d43be-4711-451d-b67b-4641da0a8a0d CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2323f695-4607-423f-9be7-857ecdfee5a2 CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bebeeaa-3dcc-4e8f-8a0e-d659a72b11b1 CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f75809-dd64-4b03-ab07-e82fe28eb35c CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d979e97a-63cd-4ae0-ae57-86475eddf4ca CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a852197d-9d11-442f-b0e6-ff8c4603da78 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 234fd98f-b33f-418a-9205-6b2ea8bbb815 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880f428f-4b6e-4707-8035-62a2a3aff807 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d983a0f-6b45-4458-995f-5cbba680b4b0 CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccecb1c3-8fba-4a0b-b185-d700d38893c4 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 543245e5-8aa7-4340-9901-ec25845fc9ee CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfdb9b6-f69e-4039-9170-5907c0793e9d CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb9b6420-6e99-4f34-a469-9ea92a516ef1 CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8f21f8-29c2-4c5f-bad8-5b134a9e625b CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9185b1f-ba54-4023-8336-5193d6324957 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e23fab-cea8-42b8-89f9-c6026400ec93 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bce7ecf5-584a-471c-8751-d1a3abacdeef CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3595a56-1fcd-4122-84af-6d01debc9536 CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80656150-ac7d-46f9-82da-071a984ff29f CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d28e82-a306-4e83-804b-e733be2c56fd CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75cbc8c0-41f0-4100-b70b-2d6ea24003ea CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832a1b30-81ac-41ad-8631-44edbc49b807 CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbd28919-e8ee-45a8-b0ee-bc794292c2f2 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b67dbe1-ab41-481d-82af-98bad094727f CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d7632ee-90f2-432a-8555-6f19a2504ed9 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d022ca1a-2167-482d-bfa4-8749d581aacd CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c6a01ae-d61f-4c67-872d-f4ab8ef62366 CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8720def8-70ce-4016-a191-efca5e0ab02d CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7e94c4a-4ef1-4b38-90c6-4f75afcffe39 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc459506-b15b-460a-8985-b90acef15181 CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 772f3849-01a8-435b-81cc-b11edb141bd1 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7118aff9-6c1c-41a2-85c4-1b381effb889 CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce631867-564c-4fd0-ad6a-9befb1e22465 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40f9d5a-a60d-4c47-adab-8bcec8b55668 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7e36ae3-d2ba-4632-bea7-6c4d7a7c08d0 CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b29cd8-c57c-4cf0-ab92-f9ba66bc1784 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed41d718-a203-49a5-a9fd-25bad50607de CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98bf11e-9f21-4b4a-ac20-fe036eaf4a8c CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daab1193-f47c-494f-ba3f-46bbc89c5661 CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c946716a-720f-4744-adf2-c33f6126adc3 CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4be9a71b-18b5-4cd1-ba9c-6c00b0a697bb CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09154368-42a2-477c-86cf-15a8db81fcf0 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9de8eb55-8e38-40c3-9a8a-7286e605c53e CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d77471-ea37-4493-a615-af94bd1720b6 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a766ef42-7d5e-4eea-8014-4c095baffd02 CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad4f8a93-d6e6-4345-bd53-550bbb48b0ab CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f3cb196-54fe-4ca6-a902-504f0c0dc00a CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946ce850-c51c-483d-b8f2-f3728325988c CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28eeb8a4-f42c-4401-9911-adcf23a7d5e0 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d74975d-09dd-468f-9e6b-66c9ca28e697 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fadd1af5-c549-455c-a8cc-cf8863a940b4 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb4cf27-7c8a-43c3-b574-995c97a20a49 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e02da58-6957-4a95-ae2b-da3de74f8665 CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad1a80a-1588-4310-96d1-8549fb52be74 CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a91ea19-0030-4794-a552-8a248291c26f CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454cb199-0d95-4060-93ab-196671295ff2 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen affb2f72-fc23-42d9-9a3c-0f5db1f8188f CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f8c696-7e8a-41dc-a01a-efced6b3d69d CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58ef030a-6ecf-4767-95a3-ad43d7a2eb1e CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4dd1a83-07df-4141-8db3-131c79c37211 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb4c0e6b-9d8b-4a1c-85d9-45da8ddb98c4 CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ac9017-1364-4a1c-8cba-d4cfc8bb151b CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5efeba7f-9723-4b2b-9989-c0c7fd63900c CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0411d3-63ea-4775-911a-3415d0861a9e CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b88aac2-3d4a-4875-9d2c-d0857831841b CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16de9415-b44e-4efe-85a0-96b9a5762abe CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e7257b9-4127-44a2-b997-48825852e737 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf4f0d5-52ba-4a0c-b079-12dd8ea8b1d4 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02415771-224b-481f-bd40-a89b50c2b532 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ed74ec-7c07-427c-90f2-9d503e86b67c CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c528ad2c-16e9-4343-9cfc-a40e50a7c25f CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f122b85-fd3d-46ee-8516-3130bf42e3a0 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb5ae8aa-4749-4587-ab7e-6c45d8878b2c CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b284bc1f-b206-45db-bbea-8c1900935dba CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26176ec5-65bd-4447-bfcb-91f45354bc14 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80fb39af-d49d-4260-bca3-d98eae63013f CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 933bbf77-9393-4d0a-8d4b-13c9f3026693 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec8e851-ef13-4d6b-be2d-166a46be93a3 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 337f91fd-dde6-4022-8429-46f8348c0a93 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e617265e-21ce-4a51-bb39-a25422517bee CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e2a1715-2bca-4ed6-910e-79a58b4e6b80 CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279635d9-8696-417f-95d2-a1ad4625b7c0 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cb2f2bd-3697-4d87-ae52-66b3cdd46cf5 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9e3955-3e7f-4d83-ad33-d9ca58d9e698 CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19ca25a8-d637-4047-a889-22164088de0c CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a405aa1-b8b3-456c-ae57-b455a1dc1868 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44266a06-bfba-4bd7-99a2-df9a921df51d CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f2bf62-d02b-4f70-93d5-263a5014872f CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2e1a4d4-4d2a-4886-af47-eebc37027411 CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996a048f-85f7-4346-9193-7e4c34cfa6b0 CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54669e2a-4997-4d48-866f-94588212d4a4 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9b8d40-ecd2-438b-a6c0-f791fc4d4dfd CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4621620e-dc3b-4472-98e9-dcee55d992d0 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12a5048-94dd-42ce-97f4-a9c1add9d837 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b9aa1f2-361e-4fcf-93d3-193c9f1fe0c4 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7e99ae-9477-4a37-9881-bd3deb3015d0 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83da3a1e-6e88-4e32-ac0a-d47e4e652fd8 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90ee690-c76e-400c-9bce-c40df81a366a CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 809af670-6464-45ad-86da-958a7e8d0e55 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22af4c5d-fb9e-4e15-8b4b-70d7ce683113 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2adb955-5789-4519-a39d-f9e5728d8013 CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d97b90b8-2a7f-4dfc-94aa-3647467cd511 CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1f20d80-4363-488c-8fe4-bf074d8baa4d CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eee80fc-ebf3-47e6-8b15-a286265d3f5c CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77a7dab9-18ce-48a4-bf42-a75ac3d87452 CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5caad723-c3b3-4371-a269-3cdd037afcbb CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f75475a9-a620-4c7e-b398-29d54429c3a0 CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1820a4-6984-4328-808f-af7fd87e5b76 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b758c65e-68b1-4eb0-8e80-4cfd2c4e2c13 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6aead66-40d1-41b2-81da-ae51546a29dd CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 878a39fd-8102-4b4f-9673-a395cd9a238b CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456bf66b-2857-4bb1-8430-7ecb70466638 CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 485b24a3-4d8e-4ca5-88ba-bc1c9ac58355 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa4e803-2481-4d8e-bbac-3ce07ad975f0 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61b6d72e-80c9-4d00-8cfa-5f7fcb43187e CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f4759b0-6fb3-47f7-b7da-571719db36f0 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1aa7cdee-390d-4312-94e5-a10c7d57c297 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee32b912-735d-45c7-aebb-24fbd6a4c41d CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1832e3b-0a28-4fa7-bd3a-1c734b4e77a7 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a4993f-a844-4250-9f97-8e52eb43f9b6 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0931b238-c92d-404b-8cde-861ea1abef63 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2dd9774-3a34-465f-be9e-72e3020a9188 CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9093c0c-be34-4b70-8c40-c437cc6c7fee CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5a0ca2-3a8c-4fc1-88fd-aa05cd3430df CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 951a51f6-dc78-40ec-8bef-82a9d9375760 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa900806-ac9a-4658-9fb5-f582a17c19b3 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1eb86dd8-cc76-417a-a2b0-21bd4c61be98 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150998fe-af32-40cc-a42d-6e1974e05897 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcfe9f37-b6c6-44c5-b82b-f2d485ea3bb5 CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a1805c-eadc-400a-9ff3-812f9831bca6 CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf172679-5935-4234-9e92-1b5e2de8020e CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499ae397-9f62-434f-882b-36b26dd164e6 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b79f0b63-4fce-407b-8d4d-0fc11a647558 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e292f4d-5a39-4b68-9236-25896347181b CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 304682f0-5cd4-443c-a044-f89c83cb9d5e CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02aaca76-b403-42b8-8929-776e94437cce CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 756f61d5-8cad-4982-8b1c-a87bf407378f CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379c0884-a39e-4413-885a-1a01ac72881c CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 770c25bc-c8dd-4063-a0ae-9ef8a7bfda91 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05189afe-8c53-4582-9676-3f335c74391a CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc396850-f001-4639-88b0-f0069a43bfe3 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de33c973-19bc-4217-b38d-0bfa3401665c CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2eb365c-57a2-4fa4-a983-62fe5aab8cf5 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538abcb4-5652-412b-bd71-c53272b4fe31 CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b193c19-9642-4a1e-b8ea-c9a163bffef7 CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c79196-571a-4491-955b-7d80984c219a CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 250b09e8-9633-4f3d-bf23-2dee76653df1 CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1598d9-96bf-4941-ac8d-d4f2f2fde057 CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85c64c03-1319-499f-ad14-e3dd7effd17f CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b195b8c6-3239-462e-9d18-1834c1274a74 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0405457c-4272-4a46-a39f-a137c46e46d8 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63eb6bcd-01ef-495e-b60e-0ba351f3243a CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3de493b-e955-49dd-bce3-83ec66711b8d CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87c7438-542a-4bde-8cda-7bace17067b2 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2952f76d-2e39-4816-b7f2-ae6c9930b482 CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5af51a-2434-483f-bdda-7898474f32d2 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0eb5f23-4f4b-4079-8c90-6021e5566f26 CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8923579c-9b60-4006-883d-e107781397c8 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2565f5e1-a61c-4467-8901-bb449cb0f20c CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d49b5c-14c9-4940-a3ef-8ce29216613d CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ee50ec-6cf9-4aa8-bb21-5521f5d7aa8f CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a462c6e1-3df7-4f14-a664-b34b08a3c48e CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85005283-c794-49a5-8b61-e0f2fe4e99d0 CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ff1b22-ded6-4493-ba52-532289c0e7ef CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8af476a6-7dcc-4886-807a-3bfa36849e2e CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073303ea-fe77-4fcd-91fe-a39e3d7fde56 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c5e9434-761f-4ef7-bbad-f1f3b55ceb08 CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a20aa58-967d-4253-838f-5b59b5775d62 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aed2c88-ac52-4399-bd76-be0ea80e8fcd CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af131371-01e1-4371-bed0-692a6c2c3ede CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c30fbbf8-cc1c-4d12-938d-0638921d0cfd CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf2838a-cddb-4051-a0af-869912e18dfd CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b919e48-ca32-4e6c-9e0e-23f22ab91e68 CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc378998-3258-443d-9305-bbdccc51ba05 CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2f3bf8d-c004-40b6-84be-020c784122f6 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b006c684-6da7-47de-8bb9-eccc73bea4ba CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f372463-a0d3-48c6-b956-68b44469e1d2 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38f7cd4-74e4-49a6-bc1b-a5303ac9edc2 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 018ce4c5-f91c-4ce1-99cc-cfd8730a4866 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12549005-b79d-40c9-a3ac-0150148495fe CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94f905e3-55a2-476f-b78a-07fd977b6af3 CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4caa77-06ce-4b1c-bde1-cb704efe23dc CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b9af635-e42d-4e9e-9848-bbc4fd2178d3 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f23de8e-9a5d-4cbb-a4c5-3ca55f5b4618 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38a9846f-17fa-41c3-9e9b-ea3f529e6cd7 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a37f3b-8fd3-4ed5-8ca1-cfb0cdf7781c CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cdba6d2-ac65-4d8f-b15b-c93e5dc1066e CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950e3e77-b770-4f8e-94e1-4387d5eb3ca0 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec6240db-0f96-44d6-b469-62254ef2b4b3 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dca3266-af1a-47ac-82ff-ef3b25973f33 CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62b324b7-6437-4b1e-9ed9-a70d45b62a3d CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6166cb96-aa4b-4d09-9069-553c3f2b491b CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f573e3b8-9f24-4b24-8469-dc3cad658ca1 CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7951a0-48da-4800-8c3a-e0489f66a7c2 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d0bee86-756e-4107-a121-018c31d3029f CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5be7c37-ad5c-4b63-989d-3fb81a330002 CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4a5ec3b-251c-4498-835c-41ecc7bb51a5 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc7d4f0-1142-406d-ab15-7af373c3fd67 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f90276a6-e877-4d2f-9cb2-7ec9c4d62dfc CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947cd937-c56c-450b-ac6e-2278566994de CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 067e707c-2477-47ed-bf81-d8ca8f7bfa73 CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812a0d6e-1ea9-4536-83fb-0af26ef69a56 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1b87415-3177-44cd-b781-98d57a1f3baf CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a84e0d0-122d-46ab-9931-9b69da60fbcd CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e964d0a-3331-415b-9705-7910b33b3f5c CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04988bc-39ca-4981-914c-39c7f5e120e1 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f318dec-011e-46a9-a3e8-a28aa5fec919 CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767eb2d4-2008-4bf2-9a8e-e2d81d962554 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ce73aeb-fcc2-48e3-aba2-89dd6eb5608b CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08d5080-678d-481b-b167-79be0199fbf8 CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f83c7120-fc1f-4528-8a12-02c115fc1be0 CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74792bfb-90a6-40f3-92ed-cf69f5637113 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3202456-b7d9-43a4-bc62-01777ff5a120 CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93037844-3c5a-4a10-9782-dbcc01c54e1e CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18845464-543d-4195-add6-839997a6225b CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d09b142-85c7-455d-8cb1-c061bbae5963 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17009b36-ff3b-4f17-8fbf-0737a66c3174 CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd10e77-7c21-453c-bca2-b10713701a91 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33b5bb31-6eed-4f64-b72d-5d2a57d26285 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ebe54e-6b78-4b56-b5cd-c9385dcd562a CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f2e42ed-4b1a-4a1e-93d7-6dd0ac600365 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30d9c2f-7b3f-4029-a4c9-4d4e911c48e8 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c68335bf-4127-48a3-bbf4-f6d8559ba5ed CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26a81d3-e503-43aa-b799-160f503ae560 CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a56ab6f3-b079-4147-b4f4-39fa2f3876d8 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93e8405-4e21-401f-b349-668574b3fa0f CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2662ed9-6503-42c2-842f-a71851ee48ac CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c4d5c3-27ce-4cd6-be49-c27593ca19da CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b334626-0998-4783-9818-5f2992a36f69 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849e8a1a-cdab-4167-9b61-ad437a3d75be CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05582422-ab24-4cbd-b780-cdd993154ac2 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2518da48-f6f2-4176-a99c-92a91aa79cf8 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 494523c7-a1f6-48af-9059-9e95c966e8ba CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea19e02-467d-412a-9578-b9b4614730b5 CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6086acf5-818c-4bb1-8f3d-6ea920c69530 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e5385d-08ed-4ef8-9b94-28b4203b93ae CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fe508a7-2c1c-4d21-aad7-4914d4cff28c CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7644b3e4-9c93-423c-92df-2be91c7a6ac8 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 814555be-1412-4ee7-a5ce-d98eae8146e6 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a146b18-58bb-466f-bea3-22863995cd4e CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2e5673b-be3c-45da-94b8-5756006b8539 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e840b87-9c37-442a-a9e7-51b7dfca40a9 CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba4c342b-08a4-4a65-b5cb-b580c0156cc9 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17f6673-4b2b-4041-a303-1ae600cf4731 CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d06b45f6-efe4-474c-8c08-0d07b24eb850 CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95da62e-76e9-4983-b6a1-6a96fbb0ec81 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6b71ce0-c6f6-4789-9dd1-0eacd1da805b CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0fff90-9cdc-4220-a70f-8f34877e5eb2 CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1a5749d-f710-4775-bda3-e20e782004c6 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde32217-0df8-44a2-8f39-f369bc685890 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42e8d513-7898-475a-b931-225de23dcc3d CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9cbc89a-962c-4846-81b8-b65bf21d29e5 CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f874652a-8ba7-405a-a53c-26186345e50f CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9a138e-4157-476c-8ccc-4d0f45d7b934 CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 470895d7-773e-40a6-a156-276672a8bb62 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9e321f-1b49-4bd3-ae10-c532ffc94444 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bb70d62-bc01-40e6-af09-65fe5dfd00ce CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061712fc-639d-4625-afbe-8adff1e07db7 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6c7aaa0-8baf-47d6-93ad-797924ac93c3 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c7a6b21-7a1c-48cc-85ad-9a6b1833cf54 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d18f0c50-41c0-47c9-b981-70cca4341b66 CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b239723-b655-4f4a-96b0-fe58299d070a CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4d59972-a080-4589-a521-b7273d9bba67 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f55a90-86a9-4b67-92ba-6c08ea1568ba CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd3b63cd-eca3-4523-9f05-a8cf55fd23e3 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c953d2b5-c865-4c20-9f16-b3ab54669550 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb4f6c48-a5a2-4bdf-9864-2abfe8d90e2e CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da49c28c-4e9e-43be-a6e5-5110020153a8 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcc66878-9851-4438-9e57-3b85dbe2bda4 CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0363f0-17fe-4af2-9fcb-0962c4b322b6 CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db63d884-096a-4eb7-8096-3cdf6f0fdf92 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ca6143-ffa4-4e09-86ae-a6f066526e15 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06910732-c395-4bfe-b030-e5f2ddec358b CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a3524d-5192-474c-a035-6c5881466bbd CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beff6bcf-7ddc-4476-8666-dd37e0bd09ec CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52690973-a155-4811-9475-bfd735e3ef03 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce3fac5d-f349-4b8c-91aa-d96690ff6a31 CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e17250-b0f6-479e-ac70-edc2877bffcf CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e2f3513-eb9d-4e43-ba21-2091d71b9346 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e17067-777b-4eb0-832b-38a92854b180 CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00961d81-8621-4f3c-8ef5-dcf89ae491ac CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b86f8a5-6498-4741-8825-bf08f58f3af3 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 318d268f-248b-49f3-b512-ab205d66d1b4 CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24494c76-56c0-4265-951f-2f4104149d64 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0805615-532a-4fb2-a4cf-4c8ffd98a1c9 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e27ee6-7c29-4848-8c9e-12710bc5b4d2 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0bb369e-a4b1-448c-8ae1-cdbc88bbc823 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433033d7-61ec-4d22-833b-3fbd63c3c977 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40ec2a68-6ca2-48d5-9e89-e1e76569bf83 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cfeb99-c8f0-4a0b-b25e-525657e86a07 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5773a5ab-d8af-44ca-bd1e-39951e3bb25e CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2675a3c-373c-43df-8fd6-b5de18aaa26e CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e59aa38c-33cc-4ad7-95b0-8835bad59a0a CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e2fe05-75f7-40b3-818d-df48ec1b428e CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10f0ef45-ee80-4564-839f-98bd30f54994 CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc3a620-4dfb-4cca-ad42-42d83954abdf CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1777bef-a8dc-47ab-a013-841621e5efe9 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7518fe54-26f7-4016-bfeb-575f9d08a440 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 380911cd-ae02-4e3d-8e22-c18492a9b0f2 CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ddec33-be70-4287-9980-1498aa20ad89 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77d4b945-ec48-4e83-b064-b770dae2598e CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623f5a55-b6e0-4af5-868f-70c3ced26dc1 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d147823-2493-4840-b25e-7832e7fc1ee2 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b42b29-0bc5-4d56-85e5-3e7a9c016da8 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 621ec47f-bb08-43a5-8fba-57870bf353e8 CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c01045-4395-4f90-a507-86a1f3aa047d CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c7f20b0-8076-4a45-9a3a-04a9d73afd74 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35865a60-bd14-4a2c-b22b-7d461a762b0c CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55914d0e-19b5-4f57-8ae6-8654025f58a2 CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626864e6-2292-49d7-a85d-c938b8afb609 CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7183c80f-d75f-45bb-91da-72113ea180be CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6226a4-0ea9-4acf-9a4c-7868bba0ed31 CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 040b004b-6454-4542-a262-703314a54f95 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df51054-32f0-4bae-a385-d60cef5e61ee CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7174618f-60d7-4541-b1dc-82da6af9f35a CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7cee4f-9ba1-466a-9e01-55e638b28b50 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa19683d-610d-45cb-8c51-99686d023e5a CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12705858-c175-4080-a3de-943b33551846 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6047ff46-a90d-4953-925a-70f31194e6f2 CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08a9a36-9c14-4127-b416-3ee7877fe537 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f172316-5fd4-4d35-a9cb-85e795c98028 CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2ae94a-890d-49e4-8283-8e6a515c9cb2 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b272953-5f27-4f1b-aba3-84886aa66a70 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf95c66-8c2e-444e-8349-a5db1ed38c99 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92aa4266-5363-4a3d-8372-e81c8777c6b8 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380419f2-a45c-49db-90e5-c561fe35e409 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c73de528-e1a0-407a-a657-053d096e8da0 CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92445bcc-82fe-463f-8547-53b69a8c30f0 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfd676cd-6fbf-47a0-a9fc-f95373343623 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d021b14a-cce4-4822-be6b-46d357eaeff7 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e148bba7-36ab-430e-a3c0-ced006c011a7 CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08083bb1-fe7e-4db9-8e17-fe95fc533b93 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 096554e3-2d37-4943-bb38-e26c4b6b79a2 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a57c16-d3f2-4852-9cbe-094e49976da8 CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74ff51a3-1fa6-4ca6-9ad8-4e2a947351b0 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2438f961-2268-478b-aff4-1d4f09abc4fa CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c2e222d-8868-444b-a427-242ea99b1fcd CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3da7b8b-9af0-482a-a1d8-09bd5982013b CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 715ba541-8238-4596-b2ad-ea58e11581d3 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e8841f-026b-4157-946c-2d1d8afd2f2c CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd48cd5f-db6e-41f0-aa97-5439b215849e CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c1faef5-7f06-4ae7-83d3-bdd1041fda67 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4bcb975-121e-4704-ab42-fd8bc777c0bc CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50a5b84-fbe1-41e7-b93e-f6af0769b548 CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 228e524d-9083-4a79-98f6-30cbcb8fa6b7 CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0498ec3e-a1ae-4965-bc57-4a6d097f93c9 CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 913d2ec6-e75c-4e44-8221-6253de2cbde3 CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3904eb09-1053-490c-aa43-05d894bfa800 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92749885-fa21-4002-a09b-fe374c6b5558 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3128ddf2-d2cc-438b-ad7b-1d876ec0d406 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d23523ea-e828-4173-909c-4fe9f46fac59 CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125ab17c-caa1-430e-8a76-3af640fa7d2b CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 274c9237-1640-4c01-9ce9-c80041c2e881 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adebd422-c3b2-49c8-8e00-fb090403b68b CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0acc273a-713e-48a0-9280-9b1fceaa4a74 CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b9ab03-2d12-46dc-a6c7-449a9b564771 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c61010b-02fc-47ac-b8e3-1fa48cf5ed7f CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bc1cec-6c48-455c-80af-38c55acbff94 CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fa7613b-7edd-4d2f-97b1-89e3e4c22059 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bec149-36f3-4fc4-b394-4a23a4c9532a CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bdd68368-13fe-46fa-b486-51be3cbf31cb CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91480a37-6e22-4774-beb7-a4d4af585395 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a229f69-f5d9-411e-985b-b5f79322d08c CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eee43af-8746-4f50-a393-7b08db44450b CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ea47bc8-9d67-4284-aab2-c34d2d39036e CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b45f768-859f-4258-b722-b001ba7cbf54 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2fbf192-f61c-4b27-9a7e-39656d644ad1 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0c5a82-241d-4fa1-aff7-fe93d2c29a24 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e4e6c70-a255-4404-aaa0-a987fb32a527 CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f046f3-f0ac-4b21-ad24-17eb34e3d7d2 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00eff71a-446e-4734-8a7a-ea0b8bd7a887 CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b06040d-d236-47a2-8980-0d5943cb9376 CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e45355d-f06d-4621-b279-b417e6d5e797 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0274b95-1aa5-4408-ae3b-55971e4f33f3 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63fd2db6-bc39-4b35-ae84-1a4224cabf27 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc538d48-6696-4c10-8238-b27a955ca123 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a218d770-4056-4470-8681-6ed897c0d67b CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd409f9-3afa-4c51-ba68-d480a013e17a CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a349618-2657-4e8d-a52f-1bdd46b58954 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9b3ca0-064c-4ccb-a13a-958645027eb6 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 321401b8-9a48-4322-9122-80901977026d CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab00450-d16c-42cd-8787-6921bb25be0f CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d3ab2d1-fbb9-4640-ae4e-1b4ccb745ca8 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa583bf0-fb67-43c1-8148-e9405d21998f CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebf96531-eb0a-4e66-a828-4877bf0265e5 CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33db36ad-4585-4f19-a271-925ac7da374b CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eed453c1-4501-4d25-b3cf-64e4f6a44754 CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73268dd-39e8-4899-9ca1-6f3d12739dda CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1abee3c7-9669-4fab-815d-5f7736d08111 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30638585-c45a-4d98-9df9-3705c7fd8411 CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92c1bbc2-134d-4ce2-b135-91db85aa8dc3 CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c12ff6b-ecf6-4850-9cc8-06fd5af6b312 CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36a5226b-29f1-4ea0-a777-278df15b6ad7 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274cd003-d1d4-4ca3-b020-30d34ed597cc CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c90a2d0a-c514-40c3-b76d-0eb5006afa6a CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6caa1c31-2c8e-4267-9878-5364be71ab7a CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af87fcbc-5881-4aa0-a9f8-eb4bde737ee5 CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20177f6-7c34-45d8-8bd3-c646a7434fb6 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b249b6cf-ea10-499e-b34d-5d60f3daf401 CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04db2bbe-514a-4a03-b75d-65af4afb0a7f CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b89e1f-a592-4696-8d97-a6d101a78c3c CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0d278f-2177-4c85-bff7-22e6aec7ac4b CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86690b24-25ae-454a-8b40-641d242d0a8d CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eef8895-a60d-431b-926e-a23ff35433f3 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65ef6c65-6e92-4d2c-b681-58af51e4588c CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42019074-aa01-47be-8f6a-80285aa5e1e3 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad9a63c2-0e4d-44e1-a3b9-8745376f0598 CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb7d01a-d527-4537-a855-32158d6d684b CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d48d5855-0028-4155-aa0f-ee0aa46c3c8c CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84774bb-6f22-4026-924a-ef9ae5f69eb9 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19f9fc26-fede-421c-a3bd-86bf75ce6a5f CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6f3eac-46cd-473e-8ae5-02e65941e0f5 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3600708-ee07-4a07-a5e6-af4bd9c944dd CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc74a3f9-986b-44ad-8336-9754d9eda8a7 CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d998ad2-cb2c-4db1-a052-4706a9bf8496 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f9d3b5-a409-47ee-b7d9-ca84cf4e6835 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f878aa4-9597-48ea-b3dd-060391108099 CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039a104a-38a7-4505-9541-f477c0d6efb9 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd48a2c4-1c30-4f8e-bf1b-99d2c8351e88 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bb53b9-f9ac-46e9-8c49-ecd77182fee6 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 132250de-deb9-4fcc-b6b5-378eb4861092 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131cbe7e-7b76-4c62-991c-c3eff4b4b17f CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70796209-49b5-4f35-ad28-bd09acf42f7b CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5388b36-563a-4ac4-a7fe-98dc740c0c05 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca3ab9a1-1c94-4acd-b0e5-c22254f66e50 CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b9e0713-2b82-4cbc-82da-624bbc282058 CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0662cfc0-f69f-4792-8bd7-d82d1eb2ceb1 CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efa0ab8-58f4-4093-8c3c-c9c689b5f38c CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e71f2695-ce25-41a2-ab64-d8f6409b9bc2 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e8ddcd-0d11-4774-b6c1-1fd698739751 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a874fc05-0b55-4b01-8564-20c96c93eafe CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334d2b9b-fc0c-42b5-b627-966d144c6a25 CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6caa571c-5660-4e09-9cc0-2c3efc998ad8 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c555f4c1-6cc3-4188-8cd9-e4e27b60fd2c CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1acd779-433c-43df-89b9-7403660af96a CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87cdd0e-152e-431e-89de-407085d642ed CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c402453b-7465-4dd8-87b0-3296285adc24 CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae02d359-b2e6-4529-b15c-5c08663e0205 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c162493d-92d6-4ac1-9f0f-3e36e2cd223d CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88450af9-1d13-4c48-bed6-66479b097d55 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4503a48-6739-4d9f-84c3-3a16db484f1e CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c38569a-10ed-4f46-ab3a-92876912d136 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8217bf00-aa5d-48fb-a68d-fa612ac67848 CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175cf86e-f2a3-40af-966c-0365c4528b63 CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80423f60-bda2-48c4-9be6-326a85408add CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 742a74c0-a156-459d-86a5-5f604586e80f CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen faa8e441-dd46-41d3-a4ea-dadb78161e77 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1d3647-36af-4baa-8028-fe4def9f00dd CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b210d03-cfa5-4820-8abe-d1d209762d46 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32408c75-9cfb-4296-a9b4-79a08b9570e8 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12779208-4f16-4cd0-93de-7092c44e2584 CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8b7c68-cf35-4dcc-966a-279fdae2145e CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfc0281b-82c0-4211-9f75-12ddcfa4759d CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea880ab-ed4b-4dd5-a4b7-3e4e9684fd70 CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0287b7f-4c2f-4584-a58b-fa8fc1300768 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd598b8-2594-4662-9138-09de373de71b CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71ee51f5-4df1-417f-9ef7-79429f4c4920 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e24268-91ea-4712-ac16-21b8541936f8 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 916ee534-4fab-4bac-90e4-885c83862e77 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8acbd7a3-3f6f-4edd-a2ce-987f60485f72 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2881989-306e-4340-b30d-9af9903921c0 CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d424e9a-cfd2-4d02-a13d-c78a3a0e3e70 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ca289f3-73c9-408b-b893-1b5199e4512d CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8df5e98-b37a-4c27-8aed-6c5db8fba8d7 CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ada6323-4cbe-4fee-afd0-39b858fdfaf6 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25eed0a8-0ac1-4950-8b2e-4b8d95185705 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01488482-7a0e-4e55-95dc-9cf359fa91c9 CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5593195f-f72e-488c-9bec-a19844ef20bd CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b457bbd-54b0-4257-881d-4756bb42ef35 CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5afa528-65bf-49b7-864a-11f4c701b4d3 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67dbeb9e-a524-409c-a83f-aed840312dff CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32979ab6-3f5b-465c-b932-a77cbcd167ae CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6840893-917d-4af2-a65c-1a739c450c62 CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bea340-27b8-42fb-9cfb-05faf8d924ef CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5277d59d-e389-4905-aa50-4b927a7dc53f CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1dfae03-8cc1-4008-8dd5-4be0777e2b24 CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b26bfed-4e3b-441f-bf37-d329e08e079d CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31556eb4-50a3-4662-b277-9c3525ed6587 CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f194854-c7a5-4c85-a7f9-05f722095c3d CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47f79f6-d9c2-4e77-8ea8-956d1a41b55a CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecb7ea88-760c-4679-9f82-cd6fbaad364c CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2969916-2d75-497a-afa1-5f8137cf2712 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a431d55-c33e-44ee-8103-06b448f84866 CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923c8d61-2006-4aca-a393-d076c5ec17e5 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42b39708-acad-4a06-9e25-0e141adf0038 CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5fdb88-96e6-4899-a7d9-8157d2da43eb CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5624819-24f6-439b-bc0f-ac83182cb88c CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2346fa-691c-4a64-892b-a15d972fa59a CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 708f15ff-1562-4823-ae91-fe9dfabd233c CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9784aab0-f598-4010-a6f2-7f5e8075810d CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 054de938-e6f6-46ec-accc-61cb8c1e4b8a CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9abb70-1a82-4507-93b3-13603219ff4d CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49de1c1a-bbfd-4acb-8ec6-3aea4950b2ac CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0526170-90bd-4e71-9e46-f06087903802 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9b6e590-aab2-411c-a953-e500e54e0e43 CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d692e75-1519-457d-bcb8-efd14a0fbcd0 CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6dd0b76-000e-47e5-b9ef-03fa5e807d93 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8b966b-363b-496c-8575-01275156a1c4 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c5cb0ad-1de3-4d6c-a9cf-5102657a15f5 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f4b6bb9-2a5f-4923-9d69-dba827a2d947 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18f8ad7d-65af-44eb-871d-66eef7472b68 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fc2f34-452d-45d6-bca7-77bdc71db501 CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 399132fc-4626-45c5-818d-c4ae0f7db872 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7e3a28-c868-4d1e-a488-3d7fc337e7a4 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bbfd94e-16c6-4245-a78c-2554f21f8a4f CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d9c255-5aba-4ba8-bd35-34f14224f247 CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41db2552-eb5b-4a62-8b14-f08a0e580f44 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d71212-0c20-4f48-ad2e-2bd438eca1a1 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c23b03cf-1dff-42ea-82fe-5529895e5d15 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da8847f-70c3-4472-8e14-257ef091c080 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7fd6399-212d-434b-9f6b-65af874ce9b3 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3bf138-90f3-487a-a7a3-4f79b9eef79e CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6efd0ccc-52bf-49b7-86ad-1d5bfe28de9e CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef7722e-33d0-4306-8190-19c8bd24982b CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96e58434-a2b9-4f48-9452-1ea5841dd930 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf07974-aa51-4f98-9366-5e0731ceac97 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e3930d4-59ef-476c-9cf6-11ae84e60cef CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94009dee-b8fd-4a18-b424-2fa8b5c463a3 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b5ae596-5480-4477-854b-7d16b0bc1162 CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf03e25-f4d9-45bb-ba75-5f9a269c4313 CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19c0f190-4782-4812-b8a9-43ffcdb8f362 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85117f1-457a-4a68-abc1-e3964d00f34f CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e7ce4c3-9edc-45a0-b5bf-eea604dc13d7 CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be57b936-1a55-4fde-b6b8-bf32eb988d66 CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb0ea517-4ff8-40f3-b204-e6d84de9d8fa CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f30d19-0dd5-444f-be6e-346b180afd2c CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09d56f15-07aa-48a9-b244-e375811e599e CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a1f420-893c-4307-8f80-31b63c363be1 CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ba9976a-87fb-472f-8ad4-89dab387834a CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b44fcac-bfaf-4598-8608-c028b9b25ff5 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f244a03-2799-4597-991d-0c8d13b2d2d8 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c39b44e-239c-4225-8a58-a941a717af11 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 221bfd67-b2f3-4123-90c9-cea5217193b8 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48890fbb-f6ea-4851-952a-f1e85fbb37d4 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1335a884-deab-4fc6-8bde-9f23277f7a94 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf78d587-e65a-4172-9076-f67f29cbbce9 CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40003f17-1a67-4092-818b-f3fd802b768b CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5096abf0-4759-47ab-8d57-999fb50030e1 CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e08d0296-360f-4b4b-846b-00900040ec8d CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e64987-6491-43a5-ae51-5acdfe3ab901 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df97a1ab-619e-431a-9407-e4e7a77ca3be CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a8c384-6b0a-4c03-b2f1-a1007de0e1ac CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07d4becd-1230-4e2d-86b2-996921e8a709 CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682a590d-7a6f-4a79-9e94-b1bf1020f619 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 805efd9f-5fe6-4d38-b3a1-c7c74190f2fd CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a264f244-ea94-4bd8-9a81-5b3322ac5912 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e76e4f3-dc6e-4c8d-a5dd-8babec251e75 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98133e79-ab92-4700-b42d-8df207b60dbf CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59ab9c25-25bd-4eef-9855-71089c601a87 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760808a2-9bf8-4e48-be0e-e400d23a7cf4 CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c36569fd-fd2a-4f2c-a10f-160520365d94 CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1914c3cb-bf8d-46de-bf46-8c308f1a0a64 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 850d4324-751b-45dc-9e6b-f44b99b43163 CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b7700c-7628-4efc-9f55-f81fa8f1fe78 CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0b89046-3bee-410d-abbb-2d4805458ce2 CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f7660b-b499-41ba-a5c8-061e5985c4a1 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4db3c6e-325f-4da7-953f-afe12123a9ba CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e0593d-fe88-4b31-8c66-bdae7d8ee24d CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95923a46-3966-4c83-a18b-5ac596cb5570 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63aa410-79fb-4425-81d2-a1e442aaed0f CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe82c5c3-77de-4525-a3e2-a3fe015d736c CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f6d2e8-8970-429a-97de-2c0372c57d6f CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8774e4f-b821-49c3-9606-d9db541282ad CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de85a3a-9e72-4ec2-bf1a-bb711d87933e CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9ec26f7-15ab-45de-a1cc-010f3450a13e CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030451bd-b177-4a96-b0a9-d72e0c7c3fe5 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2f05cf0-2bd9-42d9-9cd5-8b770b4fb771 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d079e5e0-e3ab-4798-83f2-f9f4b1f83758 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e843826-3719-4edc-99d5-230fd5b928e7 CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be6de88-bc8a-4c5c-95b9-4b33a4daa80d CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a33a4d5e-f24e-46bb-adf4-58d335fb0b4e CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0e6185-c41f-4e16-bfb5-090e3885148d CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bed38c0a-7495-4e85-98bd-fe4e92bc9298 CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a553d144-356f-4e14-82db-e41c31e1dac8 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65923bbf-999e-4423-a709-959aa32fe0a8 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3429623-6a93-44d9-9f2f-3a3d81f5610a CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8078e0f2-9578-43ac-94c5-265c5c94725d CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c0e84f-1f55-49a5-8c3d-7f500fa36c56 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91c16acc-c5e2-499f-a8ad-3ad31d8454b7 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d46155-744c-4213-9112-125b6146c1a2 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42ee58c2-c182-4267-a420-b9a7249039a1 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c738dc5-8ddc-4890-8dd7-8ebe40f9e8d6 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6af993ec-0409-4fb1-83b5-6ee191745ff3 CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bd9070-63ae-4a09-98b1-7df17baea81f CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 550b5505-d7d0-46bb-be48-db4377ccd58a CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b224a9-c6a6-4850-a149-4cd0cca15871 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1a644fc-504a-4f91-94bb-c30d392983f5 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35207181-0d2a-4064-8120-ece9ed277807 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6fe1801-609d-42c2-a525-705de02da959 CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851cb683-fb39-4fbc-841e-29d4db24a21e CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0723a958-0094-43f6-b555-53c352a92f5e CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 396776bd-8c8e-49f7-a60b-1cc5b61f0b32 CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86fb97db-9ebc-48bd-8664-856c56bcf158 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a5660a-c49d-44b2-9b2d-998838027500 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ab571dd-8027-48c5-88e2-199068e0d247 CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32e8cf5-13a1-4f03-b1a0-d6e7f218a3a7 CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a47ccf52-ee45-444b-a4a0-51d6313ba158 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2dbb726-44fe-42ba-9edd-5665a25fe7f4 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f261ca6-74dc-440f-bc08-050f2c361bed CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7883e37-be2c-4bd3-9b60-21abb4c65faa CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6568f0b7-3c2c-4975-8563-c926c72d05c6 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708d995b-2c8d-4c83-b0f5-e4990fa08e61 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd621af0-2a0e-4cca-b07e-a72f5fc11c88 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666768b5-9fc3-4ca7-adad-367dd484156a CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ee50423-f8ae-45fb-a968-abe9100b3338 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f957865-a1f2-4e86-81b2-455fbe9d6e23 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8084b8d5-836d-4a79-b94a-c4d87f20951f CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca836796-03cf-4eac-96e6-562a41c37c86 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e72a420d-4f09-455d-8b9b-2eea38e48cf6 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119c0a27-d18c-454f-995e-5866c27fe305 CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 614302d3-2d75-4dc1-acf7-b864dcdb72a1 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e567d89-82d4-48ae-9a40-dcd80eaa4c7d CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da30883e-0152-4252-b3e0-2c4aef374cb7 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2373ea16-4da8-4a06-926e-a63cf20fd1c4 CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d8cbc61-9aa5-423e-aced-affe77a9210d CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad507195-9161-4b37-a01f-14c29b769612 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e3d607a-9454-40c2-a2ab-7b1c458f225b CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e3d645-ff5f-4a1d-9886-0901a7c88f8d CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77dd1884-4305-4d0a-95fa-a34e29f6f99a CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f5bd2f-fdc4-4f6a-b71a-b174f48a9a2b CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12df5d2f-f443-448c-b05b-d4c3036d53e8 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a02bf6-0158-4234-a939-7d09680ee492 CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 516593e7-c108-433b-be75-a0004c77053e CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcc44d2-eff3-40fc-a683-1ae587341eed CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfbbc7e2-f5c5-45f6-bfc1-d99eea48a9de CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a27ab4-ec50-4fe5-b0b6-71708f9472df CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c767e3f3-d3d7-4d27-8879-d7a61fcaa819 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49fe220-c0e5-4535-9653-c28401e4b962 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59f05e2e-d90c-4ab3-9b5c-974fe1e999cd CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766578a8-290e-4202-846f-584844809bda CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68b1a870-4a0d-4141-88b9-9cee99bec674 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc55dc9-9977-43e4-ad75-e67e89516cf1 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7c2f200-d72e-4c70-b3e4-1ac9129ef938 CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d1a3c0-688a-403a-9bb9-4237cea27f6e CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eaf5c34e-e690-4588-a213-945b70607c97 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b50fc5-04d2-4320-83b7-356ca6d063d7 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14ee0974-1c7b-4ab7-ab50-0df2fd5a5273 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0c12ef-9636-4a03-9bfc-9e93a97eef1a CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21bfa64a-27e6-4abd-9ab7-34a36d39352e CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f658926-c14f-4fe9-831e-c892ffde2b31 CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a380451-67de-4bcf-805a-baf68ad9f616 CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5574b734-847d-46d5-ad25-5022ee76c6e2 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1adb1608-a829-4725-b77b-9c62989e83ce CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c04e945-0768-4314-bbf8-89e0448a23d0 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5bc6388-ea79-4cb6-9987-738dc7606521 CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60dfb14c-4e6c-4957-aa52-8ebf727e8398 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d517173-0b40-4c4d-ac03-6f8895999e2b CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fccf38c3-95f6-4df7-b000-4ec9c17cccfc CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edf22e86-fe24-4b9a-a3cc-684098ca3a80 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77050d66-755f-4de6-ae9f-7ddaf59bb62b CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27d7f20c-67d3-4c75-ae1a-915ebb1755e8 CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18524fb1-a33f-4eb4-867a-5fdb61f953dc CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e3f37cd-4f57-45dd-8704-f28b2de0e673 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30865abc-5b1d-4642-8019-194b8a55288b CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ebc6aaa-6fc4-4e1d-803d-3235c19518b5 CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099bf307-6a40-4aad-94ca-7de1b94403cc CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27d8661c-8c78-4fa9-af37-427f6b593886 CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab8373c-6853-4473-8fbe-870edb175af0 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0700751-441e-4a94-a69f-7cbcd2c28286 CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9444def1-8ecc-4330-8274-f4b09d35072b CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 674273a5-ba79-4153-a10b-7888764d75fb CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed928d4-304a-4935-921b-e762406bfcad CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54b9ecdd-23d8-49ca-9c63-a27d2f9419c0 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83afec35-8562-4cb1-855e-64153f3d8f34 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d42fff7-f4ab-46b5-b89f-59797e5c73b1 CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32df8090-c1eb-4dbd-aa7d-e23035f3d467 CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 162c50e6-0226-4457-a3d6-cd8231e45c28 CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b97dc52-7701-4a7d-aca2-a8eb0e7b430c CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44e1de0d-ab80-4c74-8c0a-190870f7749b CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a701158d-985b-481a-9ec4-8bfe4547167f CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e97d7e07-dd2c-4475-86cc-d2b62d8821ad CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa6da30-4bbe-4c79-bf7d-d7d499c9489f CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3630b7ff-52de-4009-a6a8-5beb2cfc85f2 CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7464192-7165-4dfd-9fcd-d3698ccd8208 CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81cc593d-1d96-491e-8518-e105d92c190d CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ebd541-33d9-49bd-9907-f444e49ae21b CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d1f237d-f1d2-47ab-b513-7f2c564c08c4 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833d23ac-1e68-443c-a411-ce79a4403bd1 CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 253bc2f0-c9a6-4327-a126-4036891df700 CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b379f342-4234-4eb6-90b3-bdedec7168dc CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49f8b2ad-a24b-4b6f-bacd-06e18ab1a376 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb59b352-92f6-47b6-aad2-76648b071632 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 820411b4-fcc0-4a91-9d5c-36f94f114332 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4ad8a5-af19-48e0-8d71-0f7b680559b7 CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a22547c-73f5-4174-9f53-f95962e8c3df CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c56e9c-4f8a-4a22-8de8-ec13266f0b21 CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b301578-759c-43b7-8080-b1effd251652 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6509d2-50f2-4ad9-ac8d-353ff06d5b2d CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f2761ed-e3e6-4eca-a03d-ce6f85f38740 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f443a31f-7938-4369-bc66-8ca9e8003c7f CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c5fe793e-7066-4470-a8f4-d27f877e121a CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30e18bc-eabf-416b-9444-d8a385fef32f CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77a50400-83c4-43f4-87f0-0854e64d7d0e CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8217f275-1b3b-4807-9b20-5b8c9e8c5eda CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b64fde7-cca4-42ba-912a-8b6dc3e73d61 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1a7651-37a8-49d5-ab32-3bdf6688627f CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5552705f-4743-4117-a4c4-d68ddb387d3b CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94235342-571f-4e4a-b502-7a2ea3547d54 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f262dac-ddbb-4dd1-961c-03104e9c7896 CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6e44e6-7415-42eb-9c6f-72f598851888 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3f86811-eb27-4375-8df6-7f3f1ed2f296 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7d9a0a-f564-4942-9627-a948790069b0 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e744b349-e1e0-4718-98f2-e93e196a0d21 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77d1f49-4123-4358-9a41-47602ed033c3 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c12cf9c2-d17a-4c78-b08e-3b05279e5bab CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e93806-9311-4b31-a67b-3472c42d630e CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3816cb1-5d3f-49ee-ac3b-bc3f2528591a CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0772b290-9744-4237-9eb6-ddfd09683273 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fbaa6e0-9e9b-4e99-be7b-e8ec586fb7bc CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5380965c-691a-4ea0-9804-80066682ce45 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4d9bf49-0411-41c9-8fb5-922c4bf10121 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019ba7e5-c209-4ee8-b060-b1c5a43623a9 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1308a687-45a7-49cd-bd9b-57d06f6af92a CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3b94d4-a04d-4b07-a4d8-2f20d48b5f0d CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18aa2e7d-0055-46fb-a388-740c9a92417c CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696e075c-bd4a-405a-b485-f3ce495f4c35 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca3c2dcf-3f82-41f9-8886-abeba3868c3f CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e546cba-75f1-47e1-9e67-251f7ce0da18 CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a301666d-b8f5-4d61-a6bd-7fd8328f4d8d CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f3c6d1-daef-46cf-8711-7d63d718dce3 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2d306af-39e6-494f-b3bf-78cf7f023ca4 CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727b1eeb-dd0e-4d18-815f-1c382e9dd8ad CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce4751c3-c3e7-4a7e-a72b-2237560b2e60 CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a560c57d-a408-403d-a2b3-3f24e57e2132 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c8adb82-629a-41ba-8645-feb39df14b4f CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf1bc43-72c6-4dad-8ab8-1b7d048f9cd8 CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a6afd4d-8c44-459a-816b-e0a394f50f68 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b376ce-2489-46f3-95d8-c64b4ea60f87 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b023ab3f-48b7-4cb5-b1dc-da9e56ec7721 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae76456-e898-4c9f-88f6-b6a19780574f CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f04b30e3-dd37-4dd1-b595-a7210940be96 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcbd0d8-f438-4c62-bd4f-15da409e9e7a CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d74dd6b9-809a-4d2e-8e8d-58e4dcfa7b2f CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458873bb-a4b4-499e-a34b-ba76148abd52 CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ea38479-6999-4dd6-8515-6fc527531961 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6547e2-570f-4609-9862-c41cdc2c0593 CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a76d7747-4299-4181-a006-99c5ee7fba6b CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8fe8d2-8cf2-41ae-b700-42d4c60a0d97 CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f1405aa-f41d-4c48-a124-f15df254ea9f CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cdd588-0454-4983-b6bc-c774f7be76ca CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bd1b3fc-42bf-4b55-9b63-b991ad4e0a8f CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c378b3-304c-4a00-b869-c401c42f9658 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a064d260-87c8-4432-ae70-a562b548115e CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49c7e3c-74d2-4cb9-a4c5-2b110c95e254 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1d892f6-99d4-47d0-8cd4-e42f57ff6a51 CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1651d1-5d94-4095-a1df-73a5e0214171 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf7cfa59-529f-46b6-8ea0-4859f6088706 CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab05d6ec-9c5e-4b15-883d-4cedefde1f13 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdad348b-3fe9-4e7c-9f8b-4198c87069dd CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3e3407-34de-43b1-b5dd-a90f7bb9c322 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9036991-5078-4914-b9d3-3d902c61966d CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54495dc-a747-4347-b4d0-8bafa17506a2 CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 023dae73-c281-4ef8-8d56-4c48017853b3 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec71a4c-1efa-4d7a-af0b-63356ec86811 CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7b2941b-3b74-4078-8ba8-684a0d965427 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2673756-e02e-43cc-9b00-a6f556d7d580 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cc5a668-95c2-4c07-9508-f31d0fe3f47d CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b7241a-3346-416f-a4bc-449e07b2f926 CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86eca863-59ba-424a-8ace-1a136951c163 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b89eb0b-bade-47e6-92ae-650a22715032 CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ba5b64c-93d0-4003-87d5-bdf148217d31 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b12731-6c1c-4eef-beb3-df47bc04e2ba CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5086840e-400b-46c8-aa4e-253687b6c9f9 CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ed64fa-8eca-4718-a188-8a92698a99b4 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea749a4f-6608-4e09-990e-38cac37e8747 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1688d6e5-1d06-4f11-9edb-25675d7ae42e CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78dc5558-05f4-4f99-9e41-c82e6aeee453 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172818db-2f56-4ee8-ac33-9fb763fc500c CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bd35ccb-864a-446b-8ff2-34b89ae018d0 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f39985-4e98-4556-a4dd-94dfd93cda17 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9ac1b8d-0887-4762-8ef4-a33275a69ce9 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0995be7-e7f5-4d52-92a6-58656f20c7e5 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3c49a90-33f7-4ea8-a75e-6f9ca1286a78 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a44636c-920e-4e18-8454-74eaf1585069 CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b09828b8-435d-40b1-9a94-6140c7a7a403 CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91986ebd-0703-4374-bc88-f56cc1b5c331 CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50403a75-b042-4540-8e3f-5213c0df5232 CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a3e5929-6e90-46b0-87b7-03c9d5480888 CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 911a7294-7e1d-4863-abfa-afca3d27a808 CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c23136-7d83-4f86-be9b-85a85269f25c CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3965d7f2-0743-4fa6-b1f2-be618e62048e CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05792380-2251-467a-a18d-bfa78ced15ef CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81288b56-409e-4a6b-9111-9b71f543b9fe CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e4c3d5-a791-40e7-b909-34777516cfa3 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd827906-1957-4995-ade7-56af3d621f21 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d6bab4-76fa-4702-a312-908fa31cafa5 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7cab47d-8f42-4c4f-9950-219eda02dc32 CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e54a7d0-08ea-4b58-98bd-078d6c6a8dce CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b79c7aa8-c426-4729-95fa-e9c077c8c84d CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda3609d-5a72-485c-96f0-e7982b5522b4 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 206e8758-07f2-4aec-8a1a-771e710af30d CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb08970-2d5f-4328-bb3d-de1ab128d5f2 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bef01e21-8af1-424e-820e-85a1a7ef1a52 CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7937701-965c-4dca-938c-33dbee60e78c CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d12a87c-6db7-4fa2-a979-f541fbde71cf CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf3a15f-00aa-4c56-b217-e8f9a398bd3a CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3acc0bd6-28aa-49b8-bacb-1bd3d097f238 CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b564ef81-a3dd-49c4-af86-a515197f737b CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d39c37e-25ac-4561-af38-6c3a6d1d5fe1 CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6b59eb-e396-4bd6-b497-07c516830ae8 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3048dc39-0478-4d19-acde-23345b8efb7c CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f710a24-1dc7-4275-b2d7-cb9458afd795 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d82d63d-9542-4b84-aee6-c38021dede9d CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a71cdb-8ea2-4413-828f-5c6745f4f7e5 CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc67a412-1697-494f-b03e-4d2d4a904b3b CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dff3786-247b-43bc-86f6-b98f5f80e966 CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2791e389-194b-4f64-8c8d-f2aef9655168 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a942d5e3-c1e1-4341-9ce1-9054ccdf1a1b CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ef5249e-7ec3-4a94-a18e-761fd3626328 CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba959cc-72b5-4efc-b9fd-4f9ba5182c00 CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48ce5fbc-bebb-4b1b-a2fb-f3ba69d5b773 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d531d75-a9e0-4a9e-82d2-f221c0ef56d0 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7344dabd-f8f5-40a8-bfc5-da901af0cea5 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba26bbfd-23d3-41f7-b861-8171bd61ae62 CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dca9aa9d-d34b-4b45-8bac-705d50d94819 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e585eb-f539-4eb6-97f4-5e15d54c73e4 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ec85bf-ec64-48a4-9dc7-763e10b1c7fb CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56926e5c-ff60-4df3-9a24-1f00da97b9a4 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf83b13f-fe1e-421b-b130-e092dc452ea2 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ce32f6-3123-49f6-b03d-2b995f50de8f CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 647c19b5-4200-440d-b4ce-bee88b33604d CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0783ce-284a-484b-9384-6d5025db220c CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab85cb30-3896-40c2-bbb2-e56427686cf5 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e491c129-59d9-4143-97d5-fe114d2d646f CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e13da84a-4d2f-4630-8219-580fb379ea1b CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3894d77-1ecb-448b-afb2-5589a37c6e5d CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8adffe3-33ba-45fe-96ca-9caa8cac9fba CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb16cd6-f0c5-4c7a-8132-f2e982522685 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5a0b474-96c8-44f5-a9af-cf03b5b05c81 CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd75d3c9-f78e-4229-a53e-c13fae59c3ef CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15a924b2-1942-4244-885b-643b1b27f2e3 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf52ede-6bc7-4902-b880-d00b9bfcf901 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63022461-39c6-4db0-b868-1329f038b3d2 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52fc314-0db6-4178-87cf-56e212b28b72 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76bc9e7d-4f58-4147-9879-58f7d9b11b92 CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1fc547-47c4-46f2-bf3d-4b60796ad801 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85fa8ece-20a0-42fb-bb1a-86c6022ea4fa CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedd052e-faa8-4610-b57c-f2c54710051b CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6b8fb1d-6a20-4cf5-8307-c10facdccc57 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6490ad33-ca41-4086-a2c9-ec1998718729 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5b14846-c885-47b4-be9f-b2cb6fd53416 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74604766-b7fd-4023-8656-0b8185eee6dd CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5000ac9-99c3-4d34-b897-80481c9947fd CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0e8354-7ea8-48e9-b65b-4832bf068bd5 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9663d52-13da-4646-a7b6-36110b0115ce CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d679897-09c0-4c6d-9939-6fe33ea156a7 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70f4ab77-472a-404a-ac69-cfa36d9ed202 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a413c22-8e81-4f1d-839e-1aeb0be39096 CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d2d85fe-10ba-411b-b559-1f60ede63cbc CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae010cb-5134-4a9a-89df-237cf4e60f48 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 126cd3c3-89f6-4f66-85a8-ce8f967c9e08 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f79e41-6ab9-4b1f-adba-a11946341ff4 CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f739cc8-1c69-4209-8703-22cdab7e27da CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43afd01a-8c91-4063-a5dd-437898be0aa0 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c913550-6d9e-422d-ac95-3c1624d1e588 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bdce5b-13ba-4414-87ad-be73c18141ef CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8f55bfe-b082-4572-bf6b-72edceb7fe2a CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab291d95-19e8-4be1-aebc-dea08431be86 CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aed6552f-14c5-4be4-91bf-41f9d41b4cc7 CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cec9cf3-33a0-4e31-9799-c17d2b09b78e CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1201d78f-6c04-41a6-a96a-cbeffeb639a2 CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd295a1-5718-49cf-9fe7-21098fbc4caf CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b75cd52c-52c5-4098-b2ce-3a87ffbc922e CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d28bc5-ede8-43a3-ac83-1be3705ef03c CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bd0331a-94c0-45c5-85a4-334701546a35 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88107dc-bcd3-4f07-9384-c4d6b290a0e4 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 704ff609-4ba2-4189-bc6c-ea8599420bf1 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9539ea2f-b1c2-4657-9927-dabdb08be98f CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d0bcc79-899d-41ac-b8bf-786e9eee77c2 CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2a60d7-3f06-4857-9b04-0a1f8574e866 CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08f23907-f8cd-46f7-96f0-ae1bc181b7ac CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1acb1f3-51c7-42e0-a397-e75d36771aec CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c72ff1a4-751e-4082-a7c6-5aae1af44f34 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5cb900-8399-46ed-8258-52f02f75e7d5 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d062460-3b01-430e-a046-a2aaf8511be1 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f41e99c7-5722-4c67-b777-16feca3321bf CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72e0f362-d176-4a16-b25a-bbd3f3d44923 CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d97805e0-f36f-4599-9843-cdbbcbcf3642 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03ee1608-6018-4502-b62c-4b245a60bbc6 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075b1d01-89bc-44ae-b66b-0e350a575b0f CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17f85a08-3b8c-4bdd-91ed-c4d2e22ba6fa CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e3b04a-21f3-4efa-a80e-1dacba0253b9 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8af4333-5a75-4783-99f9-83ae6944202d CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e52917b-062f-4511-a853-f05d8ecdec76 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e542c68a-c4b4-4589-a36f-4bc5cc70bd0b CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec8b562-33d4-4b91-9cc8-feccc9348c9b CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 773ae810-0146-4384-8908-f495e9582b13 CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c98c4b38-4d7d-4c68-ba77-83b50babfdb7 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68716f93-7c3a-45fa-8add-6108c5119d5d CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d762c891-3bae-4ec5-9b6d-60c5b525d3fa CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b500b41b-72c4-41d0-a5c5-ff166136e635 CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600e3deb-6e02-488b-a79c-c4f5635f4bc2 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c33e63cd-28dd-4640-9108-9e94cbe3229c CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460adfa4-3eea-4087-be18-af23a3674fbd CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cd680d0-37c9-4e38-9298-cfa6b994dfae CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6e63c7-21af-4062-8789-ec28f8bc6828 CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4020a854-6bd7-4c42-af39-239d9dd2d584 CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb7de049-5e46-4c9f-9b6d-0c786d9c8798 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen deba4d30-7f26-4b00-80de-4761e4943e89 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff83d3c9-fe29-4caa-9710-c65db6de6d91 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 107b195b-23f0-46f5-89a2-93138f2ad359 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560ab7e8-708f-4c82-a572-601be3a54b71 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a47074b8-ccee-4e8d-8e86-37c24188c3e6 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912372e9-879d-470b-86a8-9234b921cf2b CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60bcf4a1-b1f7-4ca4-a487-8b7770bef2d2 CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9793bc91-57f0-478f-85ad-b20211fd5a42 CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c62cb663-c661-4eb2-8919-6e62da90b1fb CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10226c1f-36b4-4b17-a46c-1832c134c60e CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d37be5d0-5210-4d1c-bb18-6fb6cb5cc173 CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa86c44-d913-470c-8f65-56c69d4febfb CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ea59866-0737-4c91-b5e4-09548b9c0b41 CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533a126a-e71a-468e-a076-f9aa5b0db5dd CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8247fa1-4806-40dd-865d-241e0df47062 CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6725ca-1cac-4eef-b00b-ee6d28168d73 CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6073c6d-1d2c-4a0b-927e-7f98dd057c50 CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f5992a-1edc-4cad-a7e5-9393548e4820 CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a261571-c071-4398-bef8-10fe1cf3cb29 CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b701af-8b2c-4eef-a299-dee763371c2a CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3732c956-680e-47a1-b91c-4f8907a24b4f CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6d397c-76f6-4b06-b52e-855b2512f4e1 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ca536cc-2105-40d9-baa9-6fb1e000fefd CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e06b22-5d86-4fd7-9a98-92f8969c3a2c CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab1b8d4a-4ce4-4125-9be2-d1b438ff6593 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b70fd30-a8a3-4fce-929c-655834e22deb CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ae607c9-a82b-4cbd-b780-4fcdd17feb2e CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b5393d-2c8e-4487-b0ab-961063a31f7a CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b4c0f65-ad5e-4470-9d15-ebd7f047f6dc CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b6a7fa-adef-407a-80b9-a0f6d0638c4a CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d970bebe-e0cd-488f-a4e0-847356c7a9c0 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1eaa993-a765-4174-aad8-80119287292b CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14a94ebe-3f42-4b0a-a480-1bc12f1a36d2 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3571bb-5f37-4551-a145-1c275f8ce69d CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 566a21fd-0f1c-40dc-878f-64eba60f4621 CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9506c024-85a5-43ef-85d3-5910933f515d CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad08c032-74cb-470d-a0f6-15b5cc62dd16 CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d364fc-abbd-4e0f-96c4-bcf94444f59b CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a6123f2-ae27-44a9-90f0-217a02a2e569 CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74e1606-e9b3-421c-8bb6-0929823d25a7 CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63c5b3b9-99c3-4b16-a544-83e0c2c4781b CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4b9410-a947-460b-87cd-35b38192b09a CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0a59a08-22fc-4b28-93cf-c4b7e8dbf895 CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3cca8a-2852-47f7-9f8b-03643e3019cd CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a67c0603-c428-4961-90f9-e1e62b2d2000 CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a13fa4-f0e6-48b0-945b-48072c02d81c CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5508b34a-5797-4f66-ace3-4eb8195ba1e1 CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea636b9-2935-4b8e-9eeb-57e99042ad01 CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4499a9f-91db-485a-ab96-89ab1645a685 CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2459579e-bb69-4ebf-8b99-dca2d423239a CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5baf22c-a85b-4757-a6bc-25871edd2855 CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0962036d-6c6f-4b3e-ab85-5350c4c25eb0 CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df7bf66d-b3b8-4a94-b003-bb47a50f454c CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d062bf-761d-45db-93dc-911ec55d365e CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec532e8b-2477-4734-9712-77712a88b81e CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815033ea-e81c-4090-bf0e-21e711e58645 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7ce7cd1-c7ed-4e69-9807-db2b1c2da454 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c921d6d4-35b1-4a70-86ac-0679aba57b1a CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64063e0a-5a08-410b-967c-705ff4ba0c5f CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e705996-1af5-4739-ad8e-0af273fac191 CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a7ee95b-c9e5-431d-87bd-742ccc1f54cd CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1fc3f43-4731-4dc3-a6b9-dfbafca3ff3b CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cefbb19-c371-472d-aafe-405335ad27d9 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f0efa0-4ced-4a88-b3bb-0ab62a1d7bed CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e6fe072-759f-4248-917f-00f0a71c3a9e CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace9c04b-5e30-4730-862a-f7db55a1ef00 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bb9be09-309b-4ddc-b7aa-828175da756d CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0354e03f-83ed-42b2-913a-6c4107023417 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c402f8d-d809-43a4-8838-b5b0e621da16 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd36081-f852-4349-8408-00621e039662 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec23ec6e-d9b2-4bac-95a6-bb8a152c8611 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef106ee-e594-4bbf-8ddd-15c337e6fab8 CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f672cacb-aa65-4b50-9553-3deef178e810 CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb64f26-7b33-4171-b8f1-f9b381109d3b CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bc21616-a288-4136-8962-16d12877741a CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ddc1e8-1c95-4d75-970a-5e4fda6ebb59 CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7653761c-b24a-461f-b634-4fcbf0af22de CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5861617-cc7f-4159-8217-9e942b04e62e CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abf94832-7df4-4749-ba2c-77ebad74e18d CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092bf604-1776-4831-899b-2709cbc5efb4 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffa206d6-dc31-42aa-8462-325e23a48d5c CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d4ec0e-71ad-4050-ba38-2dfbec026e45 CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2f3a20c-cd8b-420b-b67e-06d17a7da1de CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b257ecc1-40de-4d82-9658-ce9d602f114d CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbfb7f6c-8b92-4efb-aaef-2c613a323ba6 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc322859-1d08-4436-9034-c92c2753de35 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74686f97-fb19-4300-8f8f-2a4b96e21d66 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd3eb3f-96d9-436f-a5fb-91281adf6782 CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c74f28-38b3-46b9-b6a5-88dcb166cf9f CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080a8348-7c3d-4854-b58a-603ced880557 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0df48ea-027a-40c0-b299-66a2d7b34de9 CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acedc12c-ecbb-4597-8477-4bb1577fd41c CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eaffb590-2f16-4c5d-a023-1b757614be5e CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b5edd6-9fb4-4f90-a7f6-a1a3ab3ae877 CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d1d486d-ca35-497a-9177-cebf69e7dd27 CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2a262b-7507-4da8-a995-53f22b96cd17 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91e60fcf-524e-4219-a13f-ffce92a6d2ca CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e431b63-18ae-4ff6-acea-d3b53014e7d3 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4ec6dbe-a7b0-400e-96fc-43a56ab3def4 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553a0fcb-f474-4d3f-98f8-4658af6ef368 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed305c00-b231-4cf5-a37f-c20cf9dbcd88 CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6456ea3f-8d35-4876-8766-912a0862c26b CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71f3c145-bbcb-4748-a765-cf80e774a78d CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed165ec1-5aa3-4349-852f-a59fd987f8fb CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f09123ad-2ec3-436d-9d04-28fa6492d04b CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ff57e1-d09b-4ebb-9d3a-12bd28d9b9e3 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62207b13-c2de-4769-8e2a-9bc59a8198cd CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cb5c5b-0de5-43b1-9942-150a9262ec5b CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f593bc67-da95-45ef-b272-fa1a61f3358b CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76efc72-8a75-4e85-9c95-2b7ce0d76d47 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66e194d6-232c-49b0-92ea-cb7a5b9a8b30 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a77305-0a4b-4d34-8db3-9eee7ff8bc36 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5191623-7273-4db0-b159-4b0f407ce497 CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42deec2-1b07-4471-afb4-7c4b9ebeebd0 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 116d95c3-5288-4d48-ac3b-94cd62d61d71 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204cc5ac-aba5-4069-ad3e-476bb0cd8d20 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86829d94-1f44-405b-b467-fff0a03d3afd CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a523dbc-9b68-4c8c-b5cb-fea53f0ca102 CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b86e543-af79-4266-9801-55cee53b2594 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2eabd7-710b-4788-ac42-b3f4f923c65c CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be13e84e-44a3-470e-8a01-c73e9a8d9a40 CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25950518-2ec9-4ac7-bc39-d88aec048b31 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17141d38-d814-4215-bcc7-51f2ceffce19 CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45eed495-1262-48a2-9a5b-b79a1b813d6c CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4b00fd2-b359-4a3c-8e45-bb490640df31 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ee4930-cfb1-4a50-b831-ced1186a265e CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 685235ea-05ed-4c19-8a40-7d2c7b07e86c CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3719f7-0f71-4d8e-aa97-bed894694ebc CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4fbe1fd-75e9-414c-82ba-7d344cd577ba CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60ad2fb-42a8-4283-8a19-bc53c3d81a9e CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf820fac-9b61-472c-9ecb-cc78a1379e27 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33e44b6-7f7b-499b-80da-4352f4cc9947 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49d63d09-0b16-4fd9-9512-69b6be439944 CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57394e6d-c0e6-4220-8ddc-aaa68a5c6425 CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce599c42-507b-4277-bd2e-948fc49668f9 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d44c8a-1707-430a-b142-469473147fd8 CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 113299d7-9d28-4c40-9f3c-4c137d148596 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115c1248-abf2-48be-8680-67190e728826 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1766ffb3-2a32-4abc-a043-25e6923931cb CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43971e5e-1216-4926-a64e-4e12413e8868 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15448578-aede-419d-82b9-2c149b07cc2c CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4bad6f-bb97-46fa-bfc7-4cce6159df75 CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 449d3691-2dce-4dfb-82ab-36e959cbb4cc CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db9b81d-6f3e-4029-abe7-828b6e8ed8d5 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d96b757c-66a9-4668-b6a5-2881d2dd3d48 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becf155a-ea0b-4140-abbe-239410baf1d4 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a8d5f56-6415-4abd-8d82-91ae89ebeb5e CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5096c03f-d925-43d9-9da2-753127f7ad6d CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c868263-f1d5-4e02-91f7-0d086f8671b1 CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fbe203-0efd-4ca7-8843-76153a842921 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da205413-7b62-4fe5-988f-60d23a39c1ce CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d46525-76ad-41d8-a7fb-723998b32943 CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 413c2a7e-c4a3-4805-b00d-28303872e1c4 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b44cbc-520c-4d22-86f7-9765cd78736b CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4143c7b3-5f86-4593-895e-7dccd4b62e12 CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa31a97-6393-42f7-8d6f-395d7403618d CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a148b81-9ae4-44e2-8b2a-1d91ff6e4ce8 CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484ad96c-1836-4de4-b69b-76764def895f CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0b7787c-44e0-44cc-947a-21884c590e17 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50095f0-e88c-461d-bcb1-ab724db5e851 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fbe59fa-bb40-41fb-a75d-ac5cb66199de CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfb0cba-c5fa-4df8-85dd-e3162ed45d65 CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f78da5a-57d7-45a7-8a38-81a661b50f73 CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe3d76d-c86c-42e5-9cd6-2a4a77d2dc07 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 666f190d-1305-424a-9713-a3003afb65ab CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aba5a30-6097-4b56-a3aa-6432ea357cca CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a2595be-efb4-41e9-96a7-d9049e4ae2af CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42772b6-f131-4e2c-abf1-b2ea37e83650 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61908a44-ea86-4f90-93a1-3e64f52ff9f4 CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08fae8e4-0af2-4b63-91f3-ed8fdbd1685e CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d63eacc5-e115-4d28-af7a-9689efbb79a4 CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13884a35-cded-4ca3-961f-8fe619988814 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc76d6e9-d634-4494-bfb0-cc23c5abfaad CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126cb820-e4c4-4b35-a2ea-c703cdbee4aa CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43ab1759-37fd-4f5a-a03e-c20bb4b7fba8 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bb46b5-1377-4976-bcb5-3db8e27c5681 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4beb9cea-227f-4c53-bdd3-3b66bc028164 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59040039-ddd3-44fc-9658-ad07d541e27a CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d452887-c8c3-4b31-a46c-f0929c8cefae CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2b99c4-e4c6-4a5e-9024-8bc6d1ccce5c CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b568161f-19cb-44c0-b962-d7230b685b1c CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a555c2-4791-4df5-adf7-10ebae2e002c CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c7420fa-aa99-4c6d-b8c9-6cd0383584eb CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52757036-2b31-41b0-939c-836d3604d767 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91c205c0-578a-49f6-9a72-5331a802142d CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c3534b-fa80-4dda-8798-d498fdd01e16 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9cb02a4e-b55f-465f-befa-87013d1b9c01 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd6d0ba-8ac4-495c-9394-3b67826c9dd8 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d458938-1f8a-4ccb-9ffe-41ec1fccee1e CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920e723f-c492-43af-855a-d51087c74a04 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 571826ed-f766-4d52-87ba-a3cc2dd7d076 CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ab856a-45de-481e-87db-0303188a396c CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b64b6498-b09b-408a-b57d-2ebb33a28d2b CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ed6aa7-235f-4429-8eba-7ebb52440df7 CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31f67288-af8d-4cb3-8831-916377ce7a58 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14f4043-9d96-405b-ae96-e01138c17edc CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d9e8b59-0398-4928-9087-222d6615b958 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd80186-3b53-4d1f-81d0-8775ca99fbef CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 227c3b94-2772-4212-8454-eb9aa41410c4 CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ad4156-78cb-4b9f-81e6-dec3750a112e CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf70253d-73aa-4e38-8590-349621e83f90 CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff0cd61-0a67-4474-8125-d17c0093abce CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d48f948-07e7-4014-b905-06347c7c1983 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512b51ad-4294-4c2b-b36e-c3d63ee8593c CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0738e600-e504-4b7b-a547-e21311302b50 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c417c71b-070a-403d-8de7-e4f3d66489f6 CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9180297-20a9-4d71-8fe8-656fd42c6a97 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97875c45-2a5f-4c20-90ba-ab9c21d2f0ca CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ae78007-78fb-46cf-a85e-4d59b8454652 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429411f1-e8b1-418b-846e-5003d5063d22 CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1841c2de-44d9-412d-918e-a798112fca0e CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 007d5f71-4573-4468-9fab-cb233d5eb88b CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40c3ca7d-c32b-4817-a0fd-443f7142ccd7 CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9ddb9a-9c8a-4346-b220-072715a485a6 CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43b0b540-2a3b-49f1-bff1-6f4c33ff84d6 CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f21fa6f-4a6b-4a14-8356-f960c212e7b5 CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdf280cd-243c-4d2b-8a0c-46bcbb5bf3ea CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d055537-3aaa-4045-b8f0-46bc6398c10c CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2200c58e-7207-4d40-98b4-a578632bb875 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2daae5-ccc5-4f70-8cf4-19457cd89972 CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68eb46ac-b583-49fb-8a32-e5c03dd55cf2 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b63832f-5bdd-42dd-8fbe-23764d2f489c CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59ff3f43-4963-4c7a-821c-5813339b609a CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ac15e6-2dab-4a4a-82b1-5101093fc8a7 CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 551de0f7-6c51-47e1-8be5-8470ea6c1f37 CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae1c438-8c7c-44e1-a851-c63e2027bb3c CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 302ca66d-62a3-41cd-a710-6f1f768bc610 CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8630bdd-050a-4838-acfc-24c74480d916 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 369cc771-2721-4d0a-a749-49db5df5297c CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbaf16f9-fa16-49ab-a57d-14489397f078 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f9b1051-7d83-4d70-baf1-17be547edcbc CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee56960-a0ab-4196-929a-19b41815f9b1 CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b42585bf-547e-439b-a73a-cae9b282c870 CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336f6f6e-a2c3-4c19-b8d0-64b9f0cdec9c CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 472222ef-03d5-4017-9643-bbc28acb8b8c CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601e39f1-4a24-4596-8695-0c973c204258 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba499fc8-e54f-4677-b23a-d53bc75914b7 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5204bf5-02d8-4631-ae25-138a8b19a2c7 CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c83c905c-542c-4c01-8935-d0229bb1e840 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0d19d2-3c62-4018-a5fb-37fede762417 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d474b16-c523-449b-b30e-01331ba8a833 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c6e4d0-9ba4-4304-9d58-a79284c6a63e CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 061dd88a-d401-413f-adf4-fe037aac0565 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba4b77b-f5e0-4a08-bb94-343c617b8c1e CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d18f5ee-63fe-44cd-b782-dc4a9482428a CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27c483c-348b-4a57-b36f-d81cf857aa8a CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee568b21-62b1-48ca-a4af-e2e489394d6c CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f46d5c0-69b7-4804-90e0-32c4904bcdf1 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1cdf2667-de2a-4515-9f2b-67cd5543266d CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc49ee0-362a-401e-9bfb-e74ca2a5ae41 CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39507638-f7fa-47dd-9097-7368dd393334 CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0082ba19-6e1c-4418-93c8-9f4ce2819ad0 CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a06a7cad-57a6-4071-9b31-f4eafc201ae5 CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11b7843-0338-4b93-acc2-e89ca8acb21d CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 048f2d00-d65f-4d6c-8a97-42c333f0c9d3 CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b40b10d-b66b-4820-b6f5-7ec20456ab97 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a82faa65-68ef-4845-b04a-27b9d3310128 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b78e919d-b49f-4d4f-92e8-e2852a01a6bb CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e712fcf0-e1a2-4d75-8fca-8ad45fc4743c CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c856b79b-7a5e-4210-ae18-58ee0a3b95a8 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ee94084-5ea9-4b45-a498-b6c2c1d5c225 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 365eb453-9f1c-4a67-b53f-97c5a9deeffe CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f46e0898-29d5-4f65-b77f-e72d05e37e55 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eba8200-dbf7-444e-80a2-930f935b41b3 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1418bd9f-50c6-445a-8bc9-192b9df80166 CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d356f9a0-f123-4ad5-849b-b3a66e7ead8c CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c02a1459-2e6a-4b57-85b3-55aab204d2c3 CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d67c5ab-3f92-438a-a7a5-43ddf392909f CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11527a9d-44eb-40f2-b570-baeac0f3862c CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ed1318-6146-42d2-9cac-afcb7ccc5fc2 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cdb29e1-4c9a-4107-8424-84275cba2a41 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db6c13d-3e29-4223-a67c-6ce4007e4510 CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e82da9e6-588a-4758-84a5-b262bb07f04a CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a04b40-2872-4132-9d10-fee878b42862 CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a3de522-c86c-4f25-b466-d5d1986c9732 CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6290ec-8860-4e20-8098-f3ccee47cad8 CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9cecc153-f066-4195-a2c0-4f6557fb0cf3 CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e1d697-da32-44c0-8282-0f0c5d149c95 CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbe85cf2-dca4-4933-89f5-3e594698fe17 CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e89916-4784-4e36-a679-a6ccd5232275 CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0af60c9-c34c-4be7-ae78-d778e196f699 CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e500212-790e-49a5-887d-4c213b582aa9 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a250ea8-e48a-4c16-982b-151bbd4d27cf CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d2edc5-800f-4ab5-aa91-8d19f659a0d8 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fa88a40-869b-459d-aa4c-5064380af0fb CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7a866f-8549-4db5-b871-437ad161e477 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19745313-0392-4b46-a477-34fcd3da44d6 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855fe6d3-da6b-469d-a43d-30644ea90e50 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba9a1bb4-90c5-4a71-a56d-fc34325f3edd CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d44950d-5ed1-432f-9f17-4c6a760d412d CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6800321-5aae-479a-8e76-1349f77e9a56 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2642a9e8-c278-48d3-b39f-2e45ec48b39c CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcfaf646-0a31-4d96-8187-ab80130f1db2 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4bfd3e0-3b60-4b95-8d1f-b2da42d756fe CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 487c5002-bed5-4ddf-b204-9323ee8fc769 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f2d26a-f682-4cb5-ad18-615023029124 CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e423f02-4751-4b60-9fd8-b4787871252f CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc94d6b9-f3a8-4fb7-babf-b9cf5b1310bb CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6439370-9b34-4e5d-b38a-ac2bc91c03c1 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6209fa3-2e10-41a0-9712-9e9da34bab21 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6bff678-0cd6-43d8-9fd5-c37e9eb30198 CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd798814-0ff7-4257-9c36-487332ecbcea CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b722ee1-5323-4e2a-b3fd-e4b3875556df CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1990a04d-cad4-4e05-b9e4-5c44660b51e7 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d2af922-ef0c-4cf7-9d25-428b2dbd7fe6 CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce78b0cf-4660-4fc5-8e6c-adb65f69ee24 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a5d4345-1cfa-457b-9e96-b42fb7959f80 CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee65e2d0-534b-4f18-91af-4052225f12f6 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b86333ae-1088-4c1f-8b93-bf5225e6b303 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0647dfb-7025-4d74-881e-7812f89e7f2a CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a92b1f8-33b7-4183-bb54-4b7781ed0b4a CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27265b85-861f-4907-b640-70b9062366ec CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8d6af32-1522-4fad-96c8-34d58519066b CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3010299-37af-4e86-878f-209d4fbf05ad CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a30b10e-4061-4f4e-9298-e20f5e662a88 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc90996-df2d-4e7b-8d84-924b34a1c2de CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa60d790-5021-4791-bfd8-ef7eb4799910 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfc69b2-190d-42de-b68d-d99d4823fa93 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e440ede-ee26-4c2a-9769-f37daf80b258 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d184e86-7f42-420c-a8a5-12fc1db57493 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ccfdfec-e400-44f1-b411-0f5c887f08c9 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b963f3-8edd-4716-ac71-af1423d80990 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc2840ba-2097-4026-8865-d89cd8ac2acc CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb15ad88-b570-4299-846d-79a22a471f82 CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 692eb3ba-b0a2-4c10-9943-610c77c0cc99 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85af558c-7774-4c4c-8763-5cb076da4e46 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d959439-6123-4d86-826b-3cd21988a79f CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a69b59f-2586-409c-af2c-9233c995dbfb CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c923d574-b554-4207-92c7-763db5316ead CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bd4a53-d0a8-4027-b566-622cf44d2d4c CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe3cd5e7-15ec-49a9-b479-b1a74ed604f1 CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77884e59-f77e-4a95-9aba-6fb6268fdf72 CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c96eccd-2d40-4bf4-8c42-97e3489c2395 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6814dc4f-629d-4188-9597-fce6935d6c6b CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67daae3d-5082-434b-9594-61618a99a3dc CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bec2fc-1755-4134-9319-7086cdf66c6a CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44d58314-1d80-4151-b7de-9bfa8ea2c306 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de248b30-608e-44f5-8f80-fd3a3b6fe96a CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a9ab1be-e7a8-4580-a512-a9eaea7b52ff CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6dd5a4-d722-4e53-955c-a3e9c9e82545 CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 140786e9-f94d-4d40-b4e4-3ec7bf46f9a9 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ffa562-e44f-4f1b-857d-5f571c7657cf CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1527655-064f-4971-9fa8-05d9489b84b8 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3271bf6-b74c-4560-8476-0dbe67ae7eea CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e0c7c6e-a7ba-48d3-897c-f8480caa07f3 CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19ddc3b-361c-4536-bd2d-a0cc4946ba63 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e389a012-fce3-4749-a1db-e374b43ee5b4 CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a1dd01-6e7a-4dd8-a83a-9443dfe8272b CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b2d9ebd-46e7-4c3b-a34a-2bb038e046b1 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49fde3d8-0fc9-4c1d-a4ef-c2d41126ab30 CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2f03b66-acca-4ec4-afeb-43f33fa0b684 CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca82103-e683-4f3b-a6f8-e57cf17001c0 CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a946a16c-e645-4acf-abba-00d409fe6905 CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b38d7bb-41bc-4242-875a-5eadb8f2cc8c CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d763c746-4928-4052-ab7e-7d54c9405fb0 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a99850-81f4-4ccb-913c-65e4084a2bf6 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c913ff5-aa1f-4480-97b9-394823a69b06 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8cef013-8da4-49df-8695-ff5ca389d5a5 CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98f52c65-a506-40ea-aba5-7a4503919f4e CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b03f299-7b71-471a-8e4f-2c0d84a6d932 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20af9ab8-c9e3-4201-afc0-85e07f6f6d5e CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bf79fb-3cdf-48f5-8829-59a81b755a84 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a280ab7-441f-4d43-a71b-267eea7b132d CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7311e0f0-8349-474a-8187-8d00099effa3 CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40e947bb-8879-4b1d-b6df-b690f242b07a CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526f44a4-1c2c-4a8f-93da-7454bfe482eb CLINVAR:464005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a10b6602-9506-4e18-931e-ceaafdfac274 CLINVAR:464005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7215422-e259-47e4-8c29-8dd622102233 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a239696-7ab0-4bee-8547-97a6f63c86da CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9269903c-1dc4-4e0f-89fa-323b0a9bb2aa CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d8755d3-7807-49dc-ab23-b3a690454428 CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc865b18-42b4-4ee1-8351-6d370180cae1 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1541dd0-dc35-41c9-87aa-e0e35c9da8c9 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8eda25-bae5-4a01-8605-19f83a9ba5c4 CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f24e587-5b53-459b-a48d-b7c8d29ccf9a CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6e18b1-9e8c-45b6-b0f2-b2a02deef04a CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 269e8122-3b0d-4659-a706-de9facb6b083 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ff2cf4-e934-47e7-b415-2a47ec6ce825 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3561f1ab-5593-4c9f-9df5-89a6b3e7805c CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbf5d48-b97b-4d22-95da-b746d48fe7e8 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 947595d0-22c7-4797-b434-281881f2c491 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457718a8-15e3-4a97-a3e0-c772a224adc6 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 419bc723-c04f-4679-bf1c-472746d7c09b CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531747de-d494-41dc-aa68-ef12ab7dbfe4 CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 567f6fa2-33e6-46b2-a30f-cab8dac6e1c1 CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38542453-9664-430a-a42a-09e20352fd29 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32f3ac4f-318c-4d08-991e-153c7de8cabb CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2f5a50-4a11-4168-bc85-79de1c7d81ec CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 424b2ca0-b91d-4f69-a60f-22304a3958ed CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bb5cde-85e9-45ba-9edd-0c4fb1cdf9cf CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d0efbd1-6f77-46b1-a6b3-7b6b0471e818 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d74ec7-c1cb-441e-89cb-5b168e9af352 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37b3c168-c8ad-4474-a904-985ff8f7858d CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5feee133-7e4e-4a64-8278-74476d9a8033 CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fa94e26-23b4-4cfe-bb2a-337596e03ce6 CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66df08a9-29af-4349-aba5-39c2cee71fa7 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6582cbd-bf9d-410d-9390-01ad68ff5b58 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85172da5-9e8c-4d46-af0f-623d83a1f66e CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a79adc0a-80b0-44e7-937b-4ac09fcb978b CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87ac169-ea27-4c82-96c4-f353852da522 CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64f0f227-a021-4133-b7ef-66aa5a60e897 CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc94186e-45cb-49d3-9b14-0cc7f6b7282a CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81f9d144-37e8-4b0d-95e7-b9325c4bca2e CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f166faf8-23c6-408f-8e03-168899f1b862 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21358856-4525-48ec-a8e0-37eb619960da CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f19a81-1f4e-43ff-a8b8-7ea50e0ad3bc CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8d39c3a-2a18-4ac1-9ed4-72dad2a5dca0 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9528dd-a0d5-42c0-a7f7-3c5b0ea3f755 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83db1ca8-6824-4917-aff1-de3fb34ad883 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab0979e-79a9-4c61-b878-cab9d2f2beb5 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a8be72a-360d-4af3-8448-2580adc07b9c CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d975361-79b2-42a0-8e79-a40a4f726cb9 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6058e264-5660-4511-b30b-1272e4b3b34b CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fae641-bbab-42f0-8a62-32097a4acbfb CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7db10ab8-4c16-4231-be2d-6643a32f5fdd CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d5b208-b366-4b46-aac3-64bfa299e763 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fda8459-7e0b-4c9c-ba01-9a3312dcac4e CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a4c562-627e-4e9c-9ac9-4b701f8ea71e CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2315e53f-eb36-452e-9f0a-8d785d856f44 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e79d09d-db1f-44e7-97e8-43350d6be524 CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f30d09c7-4efd-4d45-b546-1ba33daa632e CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d5377b-0a3f-4564-9948-b97bda2d0b46 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58d2b86d-314d-49a4-9742-df098ae46116 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382c9c3b-8a81-450e-9090-0c455ef43045 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f0b6f87-ca30-44e3-afd2-27428ed2f83b CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4222113-eb77-4143-8ed0-5d5239f39515 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dede71a1-c6ca-41aa-be73-72907a983501 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7293ce0a-3ccb-4f0f-8311-0d5125617af4 CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 541228a9-dba4-4432-868d-2faed4652a63 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b98f07-c712-4f1c-a5b0-733333244b06 CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64da8841-8f12-4269-960e-d098c250818a CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b731803-f12d-49c2-a097-46c3f5fd12e4 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40f89365-0086-4a92-aaf2-2eb68a35dfb3 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41b8cb3-b3d5-4b3a-a346-0d5b92a0f86f CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a1ab9d3-32bc-4210-8ac1-29ee8d735933 CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe273cc-fe58-4ecd-a628-8c97fe206aa2 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6af0dba3-c0c4-4473-8393-c673d679d8ee CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eed141f-9ae4-4eb5-9b84-a5a5bbf30ce9 CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b945376-44f6-4550-82db-8681fc958b4e CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4269084b-57cb-4a0a-aca6-425291b2073f CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe872f6b-33e3-40ed-a558-b05971934421 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c859888-44bd-4080-a4e6-c6001490c6af CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2bfd305-30dd-49ed-9467-12e640818fac CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8c5a82-ed1d-42f0-8e09-b88967c0880a CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d40e57a5-0c4b-4da8-976a-bda28b64a123 CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b01f091-8bc7-4e06-bd6a-8cfb215bf14c CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b9875b4-22f1-418b-b6bb-85bf78bb3a34 CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9467a726-5cbc-4ebe-8914-707fec18f58e CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a008b9a2-6176-46d9-9b1b-adaf5e2c1938 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfed6f49-a209-4ade-a5f7-b834318ca7eb CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcfbacb2-d6e4-4950-b844-40e76ae0d915 CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafb64cc-ef69-4f96-b4ca-dccc185aa97e CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de66f752-9946-4ec4-8330-088feb1ce49b CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142b70b8-e895-4805-93a5-47aa1cbcf0d6 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c672485-aad5-409e-9b91-42731fbffaf0 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3537262-70a3-439e-a661-02e205c805f6 CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aad903e0-b4a6-49b5-9081-37cf8d3adb0b CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c56562-dcdb-4fb2-8b98-2e7b26ed945c CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff56991a-85f8-41ac-aaf2-dc0836368740 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914b712b-ed51-4d59-b443-4917d53b4769 CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6c21979-0e3d-4148-8f97-8060f2f0963d CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86ea60b-09a8-4400-a305-a009cf7f4eaa CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0381436a-1f2a-4b36-8e50-60c67fd11193 CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8cac86-e2b6-423f-9676-397c5f8c4e49 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e033d8f5-90f4-4096-852b-78f17e0bb073 CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b2d3be-86b3-4ce3-8ddd-a9e509fb456b CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a39cc0b3-997f-4f66-8ee0-17b80e336b17 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2074576a-606b-46db-8e02-dc7c280f59cf CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af693e6d-46f1-44fa-b73a-270481c6376e CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994ba2e7-62b7-4ff3-9ef9-5066dc2b649d CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6e1ede0-082d-41be-997c-0e94896c0b47 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04a8b62-2a5b-4069-8c7a-1766b429810f CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf0dd369-c3d1-41cf-b9b6-5da8c5e4ae60 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83efeb7-8718-4574-a9b7-109d72c3d6b3 CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d2300a6-f127-4e82-9d8a-36ad5db9605a CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2388a407-fb78-44e9-87d6-cdfc31b56b75 CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07687c2f-e104-4c3f-8962-c32b9afc1eb2 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a844d461-2459-4af7-8d4d-79da45487339 CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9bfbd4c-32f3-48d7-85d6-577317e60d0a CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5cdfab-f05a-471b-9b9e-f298a90f73ee CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d16e8cd3-bdfc-46ab-94c7-8618b6e77c3d CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f735f0b-c65d-4579-b867-920300b837a8 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94418797-5745-4fad-a8b4-ba940b347989 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab61bf57-bf4a-4b6e-bb59-7f3488019396 CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 224d0fb6-032b-4557-83a7-9b6d786661ba CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f3a182c-0950-4451-8256-9d2f73c80f43 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a717ec9-5fb9-47aa-9ba7-b79f0291b036 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d61715-c391-4142-910a-8bd9949c00e2 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa508808-6b2e-4977-8ec1-a82101d38cea CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ff6c7d-8701-483e-8674-65cc2927fcc8 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9112efab-3188-4534-b4b8-87470612b0b4 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f098f4f-4055-47c4-9a4a-a1f7e4985061 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0481ddc7-db38-4ae0-99e7-96673cd50e71 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ece64e8-d44a-434c-8dca-85773e318bd1 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 410acacd-871f-40a2-ba2a-750875160724 CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e96a87d-487c-4ab6-bbc4-17d7198e4cce CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6036e41e-2b70-468b-96c9-61594da659a1 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bc33a6-c759-4dc3-a1ec-209fbfd2c91c CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50db4071-81fe-4de2-8b75-03fcbc768a2a CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f03f258-833f-486b-ab2a-b357c1289210 CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecc8c68d-1837-482f-9bc7-fa5569b97d76 CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf972a5-726b-47c3-aad9-2298e4521e12 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd16ee97-04e7-44f3-9ddc-55ce7cb80f37 CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59079e0d-c490-49ca-a2aa-42073b8094d4 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36aab651-ec6b-4f49-81bd-523d2f331049 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edcb635-b115-4f51-a472-a9cc205bf6e8 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 795ed722-bd88-4046-9298-6ef4072e0564 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4ebaaf-c7df-441c-bb8b-4ca79113b43f CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8939c65-6297-4e1a-ab11-5d4dda4e46f0 CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb4d591-a341-466a-af7a-d0d5ae219d0f CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a45dcab-10c5-4201-be13-e07eafd53634 CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16271ae-8f10-420d-9037-18d9b11be4dd CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98249a12-4b3f-4661-992f-5725da4aa34b CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49284a54-c94e-4f66-8414-b39c21fb6e62 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4e4d5a1-ed09-4d33-8c76-78080e7fe161 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a0a25c-73f2-4979-82b4-8282c66f7cad CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7577c079-76fd-4983-ae8c-742882c5381d CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5978f7d8-144b-40d5-afe3-f124d6c44301 CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a2034f5-7b29-486b-adc8-e7da04a4ad5b CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fd5db9-1592-4e63-a5af-50d0266ae3ad CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93a5499a-409a-4bd3-bbac-c7e8a57cd07c CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0ba05e-4916-4324-a78d-f2c6a9216530 CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aa70d35-0c2e-450d-86aa-0482dcc586a5 CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7753c09-0954-4073-83d8-0d2a556f0471 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 310f1882-6258-4da8-a7ea-547e5e3e24d3 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3255df-1358-43de-9d34-b2a2cf3e934c CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 417fd0b6-4fcf-41d6-b322-f227168139fe CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfeda7d6-96e3-4f90-b9c3-c032faf18f68 CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c762344-94c4-4876-bfdb-437fe10723a1 CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9847ebac-8a76-46fc-8a67-10a83600dc9c CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1700c09-4305-4df7-8a70-8d2199a45629 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c143987c-c8ca-4b87-bb24-a3ba2d1ca601 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cad6110-6ed0-4ccd-b359-a535d2d7b26d CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbb1f7c-5d35-48a3-93c9-9fd7997d5195 CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8d9044b-21e2-4024-a262-538d2d2e2660 CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7165d2-68ae-4640-8e10-232dfb64b88a CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 978b4062-cb48-4482-a0f5-e5709e303433 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cae5289-7f42-4bef-9873-2112b4deb37f CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf7c6f7b-5fad-44de-ab35-86b7cf3e8773 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9fe55e-20bf-438f-a369-442f1d0bf536 CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a53c070-88d0-4ea7-95e1-251406d6a8d1 CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb1a7da-f68b-411b-b200-e1afc7c3c5f9 CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63a27767-e926-4b23-8d93-f95c8b146110 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8027ddc4-dc13-4868-8647-49ddc642e641 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43a90fc1-be30-4618-a628-1e829555bf2e CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e49a108-ebba-480a-82d3-3b8c298978d0 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0e81806-c292-43d2-b0d8-31abbda6457f CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0a7bae-c015-42a5-a696-b910d07c4715 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e13fda0a-9e5e-4224-a3ac-76a52017d3d4 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91e831f-2658-4d4e-bc26-14a6a4483d52 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0eca5749-5e48-4213-a0b9-ab98cc71cba5 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcef8c7-4e66-4cab-b88f-76a9850011c7 CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edc86f34-ca40-45ca-97df-7a6698fb5525 CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23c3ff5-9772-4d0c-91b0-fa8198dc771b CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 029ad0bb-ff44-4c1c-84ad-f2d15facc693 CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e416cc-0bac-4b50-a427-9a83c000b5d6 CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65c75939-9378-4efa-9042-59fec88090c6 CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8957b9-36e5-4891-96bf-2130e67e63ce CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 421fa005-2604-471a-9230-b1a4c6bed41e CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295c12bc-b616-44e5-a128-a8add66c0c72 CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eeb729b8-cb6c-4846-b64d-7839ea38e3e5 CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288b109a-c1da-4575-877b-15f00fd22233 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4ddec14-77fb-409c-a839-84031927453f CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76cdc9ab-024a-4d76-93d5-b6cd107a05bf CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdc53d67-6ff0-4fff-a040-5aeb7950db35 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37d6d40-49f1-40c9-83f9-3eb99b9100db CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 009f7868-6236-4f9d-a1dd-6af1f6fd07a5 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8534f13-1a7f-41ee-a1e4-8b5ac7798da3 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8981a347-8bef-4557-a3d1-cb8678fd0e26 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe060c00-b6db-434e-a715-57b2ab6fab99 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b11cfc1-5b9e-40f8-939e-55ed7938f455 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eeb1e08-f467-428f-9502-e946f05fd2cf CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a8afaf3-92a1-40d3-b3b9-3f4bdaba145a CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ea0719-7848-4a53-b6f0-26e1e8facb4a CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 154ee59d-e515-4801-a9b5-ec7a60bde8ce CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c851c4-1af1-4bfb-986c-fe4c151ae000 CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa7540b2-1d8a-45bd-8f79-d20702f4a19e CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231d34c8-dc93-4519-8744-23ed2647a089 CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8586e17d-48d8-4026-932b-359b30fd0952 CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3553a201-2e3e-4fe2-8ab3-7aca59edec8c CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7537bfc-c660-4622-91e9-b4522b5a1631 CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823ddc28-3af4-4139-90be-9104bd730640 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea2b356c-da0e-47d4-8b62-18e2f89c06b6 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec53423-824f-42e8-92b4-3cb1614655b8 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5cb450d-4e5b-4f2c-9b47-75542e3ebb22 CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6adf47d-1f02-434d-b0d7-cd1e9acf3728 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28ad8b99-c0ff-4b84-b33a-36b185c15903 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e125c9a-bfcc-4312-8f27-1143e1940ebc CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b2595c-ab1b-4cfb-8ddb-49acaa87be22 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b42b0cf-d642-475b-8181-25f1b82a9d40 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2fa7d1e-b4ea-4988-8932-9da783e6ba58 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688faf60-828c-4dbe-98e1-4dbeb335f1ea CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c79a006e-a9be-4910-9151-f6bb85c0650e CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53fc6b3-e753-4cb1-a0fc-c8ed01da2171 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c320a0d2-1bfc-4f26-b0e0-bc4a7ca6a771 CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc95e0f7-873a-489c-8308-821b002c34f5 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a363be15-df0f-4199-aaf3-5c4dd6026318 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86896e7e-1b73-4dba-91e9-4a7f6468b8bb CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49b4146b-b745-41e0-987b-366da2254aea CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b02fbc-ea8b-4083-b764-bf3bc0994d38 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e235c78-e8a1-4710-a9b4-11874d855080 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3399d2-6d89-4f75-8669-a8d1fe9e05d7 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 457b4f5d-a75e-4a8d-937b-08976807bb7d CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57dd6f0-d782-4800-ae3c-c1d6084912f6 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee98ac90-a0e3-4c62-9ff1-00e39b7a994a CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d630ba9-39c8-415d-9572-619cec69d5db CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deda7f53-c89a-4663-80d4-c0d9b3a06ca5 CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78bc4898-87a7-450f-8896-7c663cc006ce CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 898191dd-24fa-47b9-b953-3a1040c9287e CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453c1091-22b0-497e-afb5-f5dbfe628f3c CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7d0b4dd-598a-4bed-a34d-cd6294003d50 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80a784b-73a6-4f27-96ff-d348ea39c928 CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beb349b2-9ff3-481a-9e89-475f56e57a50 CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7a4f2d-ec11-4869-a662-952e24337511 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e736cee-9fcc-4d63-aac6-00c928d24b77 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e4b75d-cdfd-4733-9869-25d8481c37f0 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1059b2d7-a906-429e-91a1-d4fe53b93c07 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce816b1-7bbb-4d6b-bea2-ef83abe1f33d CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03248822-df86-429f-be7d-08a288916148 CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe97655b-f924-4af7-83a6-9954263efcc1 CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f54c421-ac0e-4a5c-89ac-871b8ca5f826 CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e16f90-7d08-47e6-bfb2-d5e5650bb15b CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d948011c-da3b-415c-a309-63d6d4afe136 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3545e65f-d724-474c-9df6-6f214d573454 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e0a8bd2-bf9f-43fb-8b95-673301a7b5e2 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95a50ee-1ba8-444f-a6a4-1904f6d1ca81 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e898d533-6244-4dba-8aea-02f068aa412c CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2560e7ea-1bc4-4263-88cc-f177f197bb11 CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75a0e77e-f0c4-4587-af98-b16f82ee3bc6 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b18750b-af75-4670-b4c1-e01dbd145592 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08a6dec3-d024-4a0f-b027-05c29f55105f CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed08ba2-4b77-4590-81f4-574077472e37 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcc766e9-b56a-455a-893e-537c91f41403 CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd15bd80-38ba-43a3-878f-76d2a7409232 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50458f0a-67d6-4cfa-b033-474d04791758 CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3555f5a6-b3cf-4860-8eb5-bf47695519fb CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ca14f19-3edd-4856-b002-8dadb33eeb05 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3058aa4-f0cf-4fba-b003-4ebfae9fde2d CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb12ca6e-9d12-43bf-9f78-fe0e8629c7a9 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd09d4f6-440e-4d90-8b87-3446b0854fbb CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62199ba4-aa0c-4f19-8731-04df9c848752 CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac8ffbe-528c-4e01-bd1d-52e9fa860edd CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0791bc9-3e9b-4087-a7bc-6b608165b42d CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d942e6-acbf-40d1-9516-ff7b713d05c4 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89d368c4-a27f-4fbc-b9ad-e16004f32dbc CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89b1cdc-890d-42d5-914c-18ac0d90cc6e CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd0fe0a0-27e6-4d99-97b8-55a9c0864d6e CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9578f25c-327c-4d28-b73b-39eb2f939453 CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61cf47e3-a8c9-4c14-a990-f9a99ce29e61 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e50ce5e-7ca1-4888-a429-ea8f2aa807cd CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 430c6e8c-a240-4a13-a915-71218235f881 CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee00a797-6598-4856-b2a4-299e5d35382e CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfabdd4b-2830-40a6-9820-f81392c4bde4 CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dedca03-f59a-484a-903f-3954cc33cb94 CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1579abad-cdaf-4b79-bd30-3b5b5d8cc23b CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4d051e-79f7-419b-903f-dcbe21835363 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49491271-a8c5-4389-a268-6a70bf14ec5a CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4772e331-308f-461d-9d80-c9ba9d5911c7 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d1060f2-f0b6-42df-97fc-69545606a0aa CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c69346b-0740-4007-9672-dacb328b098e CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 923210d8-8dd3-4148-9454-b80266a716ff CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8212d16c-07bc-4b1a-9244-32ce270cc269 CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f380bdc1-bf1d-4ef5-98dc-7bdae776a7bb CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd85828-dbc1-41e4-a50b-3f2d10c0b8c7 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1c36073-c05d-4ee7-b757-c4b6b7b73e74 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fdd188-e390-4afb-870c-aca40fd48a3d CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d1c2e4e-af8c-42e4-84b8-dc104a5c5f5d CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8c48a1-5ebb-4199-b869-9951ebe21ea4 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e662ddf-99ac-4b41-af1d-ed7018c38bd0 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e2ebbb-6556-4dd3-9d50-64efa3987926 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6054fde-2ec6-4529-8ade-afaa9bc839e9 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96262b7-a0be-43be-ae8e-e48e6add0df0 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 102e8762-b1e4-4081-8b7b-08f78fd9bd76 CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b870386-9164-4135-ba32-87529edb9570 CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddb9e55b-4b29-430c-bd1b-e8b9c175d1df CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 266d197e-969c-4009-bb77-3ac248fef231 CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6bfea73-af74-4f63-9cba-ad7d215c6154 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7889e4c7-8a9d-47d6-8369-555932710a99 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf61e020-5489-42e2-b015-d7da2e1c26bd CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6869533a-da07-4ea9-9e12-f5242629ba73 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34e9e6aa-f5ba-4000-b8d5-2f6cea4013b4 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a121020-fb0b-449c-9916-972b6653576e CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5854a0d8-605b-4311-a74c-a108135b81ac CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae23a017-5624-413c-8a93-11a2fd02a34e CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d37dc1e-7ec9-4a5f-b51f-292b49aac98a CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9692d8e9-aad1-454a-a080-8091c210dc9e CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4abf11f7-c209-4498-89bd-685fe32b846c CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec43064-f116-4ea0-9290-8c09ab65ce61 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a81601d-710d-463c-87ea-d79986ac09e3 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070fb4d1-0d6f-41b9-ace1-036693196a34 CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95c852dd-5538-4eb8-b8d6-bc7d9c5a6e60 CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fb1672-c610-4354-863f-0c864a120d9f CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05feed3b-fb6c-4525-8d52-dc1dc395f036 CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45eb82c-de96-4c8a-90fa-89111a97ad1b CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa4e6ee6-d2ef-4f6d-a229-0820d2f926ec CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54a3e43-d5fc-4c4e-a7f8-21e25caf396d CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9f76154-8703-4284-83e7-1b2b8f30ec4f CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f761d17e-325d-49c7-8495-be01c3a8cf1f CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5099733a-8b48-411a-8fca-1d274ff40962 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13791738-4241-4719-b2ea-91dc29f6ba8f CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5639fd67-5c3d-484f-8a09-f16667f1f63e CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2527f470-87b6-48d3-a8de-18f25097348b CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9ed7ce-fd1e-4a10-aa55-8b4a981cb2aa CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a478b45-6a34-4b35-b83c-ef99d7bdc43d CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c605ba73-5caf-41ba-a784-db55e0977914 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab49ae23-37f8-4fda-a885-56ea67010ad6 CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6922d6db-56b9-48e1-bafa-fc6b86e39f35 CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73051614-4e61-4508-970f-002ece6ceaf2 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8338deb-8749-4fcf-af83-27a9f3219cfe CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a0cbdb-1a11-47d1-b8fd-4ea44822a769 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66ed8bfb-e85b-4298-a1e0-02ea72394616 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0cfb99-9f7d-49da-ae25-992e572726dc CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f4afa7e-0a6a-4a01-8019-e56d75a2bcf1 CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774554c5-43b5-4fc6-b95e-c979dfeab1b0 CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8df6b683-938f-4c3c-b889-dd967b78c378 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab13d5d-fe4a-4201-9a29-45b39fcfd8f5 CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60324e8e-1853-4c86-9349-58ba2e73c175 CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb7dc3a-bd2e-496b-a2fe-06d0e744364a CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2d288bb-22bb-4b07-9ea3-6db3d6aa4b37 CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd3bc53-3496-47ef-8cd9-001cdcf77bd4 CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec546274-363d-492e-b679-63ac0e90e42d CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d179fcb-344d-4671-b5fd-f45a10e8cdfd CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfcb56d4-74ad-42ca-9c6f-0d1188a46963 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56791b2-04cc-4ddd-a0b8-1984da1ffd2f CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79cb53e7-18cf-472d-bf3d-7e7ad30fc5af CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0caa18d-acd1-4f98-95e0-e72a32bff3ff CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3090f82-b776-44ab-b5a7-17ff44491e9a CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8a8623-96d6-421b-8d3d-e1954715d9a9 CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c81973a7-3fc4-408f-bafe-e040bb46e2fa CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac536a7-b8a1-4bf5-9759-0e4967dfe30f CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5079c663-5926-41d2-bc7b-b49a560e024a CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3de982e-0e18-432d-88e7-9cd614d28a1c CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98adedbf-7576-4f5a-93b9-9878429859e3 CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08a303e-4fa3-4c6b-86d7-ab34a2e18f09 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ae4297c-6cd3-49b0-95a6-7316c28b89b5 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac12aa15-9f0f-47c8-9fbd-d5bb71305f68 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dec75ca7-9633-4011-8bc9-f0d216223a5f CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c26ed54-158e-4653-aff3-8d93210e6d73 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 330e815b-97e3-464c-b5fe-8a504d16fba6 CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1d49a0-9a0c-4c0e-b98c-9dc73fbed51b CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff7296f0-2415-4273-848c-2fc928873dcc CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da875494-7aca-48b0-9e0c-561c25820b01 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f16eb20-5263-45ea-8bfa-03a035268df1 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee94516-4a80-459c-9fa5-8fbbd08d4522 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4bd070b-2b4a-43f6-ae5f-cfd523d04ac5 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78975759-db86-477c-a449-9f0c0c723e01 CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4e1c3fa-fab3-4809-9c80-82ecc1c1bd6f CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28c6248-6eec-4d2c-93d0-e8a6a98fb2c7 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77ae6a77-51d8-4ee6-bee9-379a8a3ebf8c CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729eed00-4fa6-4163-b48c-11de404a227d CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10351d63-8d06-438f-ab25-c0f8828a1cf4 CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41368ed-a96a-4b57-b48e-8c65501ff603 CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39a8bfc4-1460-4923-bda7-3ea22258fd4c CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09afbc1-e075-4d6a-ae5f-e668c192c9cf CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcd3105e-c632-41f3-81d8-a50e63fe0e7d CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4831b6-b822-4341-a05f-a14cda5f8070 CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 597f8473-4332-40f0-b475-05fc1d38950b CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb7be85-0a7c-4043-b778-222b599a64cd CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b23fd2e-b8a3-4059-b3cc-ad4618c19e2c CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a420eb-a0f9-46e0-acc3-fbfc40c14d08 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4925444d-b690-4f85-837a-edee8df637ee CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e30f0d9-30a8-4477-900d-6751326c8f1f CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81338829-1d53-4ea2-bfe9-a7cf82abeb69 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a248b93c-97fb-49d4-83da-322beaf78761 CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 996119e1-d0c2-4060-a380-1d49d06dc67c CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468b90bd-b78c-4ece-bea5-18bd2f2ee8c2 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9edf18cb-03ac-4255-8408-16d99392fed5 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c1eb7f-18c1-4721-b50a-2f1dba310c27 CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74794f9a-2cb8-4d4d-8acf-074a23d75bda CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2983c2d7-4777-43fd-b494-ff81babf0544 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39d9627f-e1e6-4c46-93e4-544dcd1f0d9a CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33add28-0b42-4f0d-af06-95e1dbae3d15 CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6375d2a-8280-4c80-a737-b5f7caeda9a9 CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43747aeb-40e8-4bdd-8e17-a03bf4f24f45 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e629669-4492-4436-b5df-6465f4bb9b46 CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a477f907-43ea-4002-8344-c3c86f505567 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3244578-f2a5-4397-bd68-72d7c1e3d5ad CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d41891-5ef2-4885-babd-d523dc8c9dae CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1b0a045-1159-4e91-95a3-d57c6835cd96 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d056b2-0633-408d-957c-e64a5716c778 CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 983e1d70-abf0-41c9-a7d2-28c5a23924b1 CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab5465e-8b24-4546-a889-6be198454495 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c57883e2-d036-456c-bd57-f63b8a6a6d22 CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f821e8f-923b-48a0-ad32-3f1c60c4d605 CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a99af476-7a5c-4091-bc62-19cbee5916bd CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c7d1842-ebb6-4825-bd10-02bf868f0f77 CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2851c72-77b7-4b07-81df-8a3d03e770db CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6db39d1-1caa-44fe-8412-0401c65af627 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96276362-c389-4302-b280-61ca236cec7b CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9000a1-a34d-442e-b40a-262e5d6188ba CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57fc6aed-ec3d-4235-a76c-93a21b459433 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80610458-b7b8-4e0f-906d-d36a48a2b936 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35d7aa45-8b3a-44f6-85e8-7986b69bc586 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9095247f-e7f3-469c-aa04-8622892f3f03 CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09be26e2-9e5a-496b-be89-5dd184b89fc9 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5d274d-0975-49e3-b878-9b7c2deb214f CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a144eba1-6a4b-4102-ba29-acb9285a69d3 CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7b4b58-49d5-4af6-9055-0a616dbd9c67 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e473088-98df-4c05-a1cf-e959b583fe8a CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78727bc9-c3fa-4d93-9e89-3408217c001b CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0113fc2d-08fe-4bd5-b352-87913d548627 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc942f22-7020-46cb-b8a6-14b0e6a644b2 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9ffec8c-8058-40b9-8e77-2df623339f13 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de03f0d-afd3-4af2-bee3-c0fb643a4212 CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b90ed743-5f13-4671-b3c7-b9a242023fd4 CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eea7655f-392e-40d6-928f-12aa5d29a8b7 CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70c15a89-0391-4461-9b1a-901032a9fc46 CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdaa0c87-1b7a-4b90-a634-b0f1ec15129f CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c25bc22-ea87-4bc8-8752-0e00ad361287 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c92d26a-f52c-4f2c-8262-ca789edabd0f CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c5c3b05-ad74-4ad0-87a0-bb1474cb0f9a CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4f5a38-ccd7-47ed-9b77-066548e34174 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfa27c6b-47bf-472d-9b1d-24155eb40d8c CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f7d37f-4a7d-4552-b080-6f8819fb1aad CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1377f95-276b-4959-a848-2e08cd9aef2c CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b78500-c22b-4fff-8f25-7b258402498c CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a9eb365-52a9-45c0-87c1-e7a558b8d4e7 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11307542-bf91-4a2c-bdcb-7d12a2cfe61e CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be89c3ba-2455-4c6e-aa2f-a009eada5398 CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34469e82-10ff-4868-bd12-b3633f6cda91 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 824c64c2-4c77-4fb2-a364-7678aa9b16b4 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5180e24-4858-4c79-b8ea-96408a145a58 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 894b025e-3620-4105-8abb-e22cb0c3cdee CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb42436e-f768-41f9-91ae-f4fa1f6c2d71 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b37f93d-efc1-4cd8-810c-9080975a5269 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1873cb9-e217-41a0-bb61-e5300556ee95 CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8bc9f1e1-34ae-4b51-bbcb-926e82624f7a CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c054d90-221e-4b68-9991-a6f5bb77f8bb CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a6196f5-9bbc-4e41-8a51-e73dcf9c6a99 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a0d735-237c-4458-b413-f4909cc76047 CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35ba9b55-5ff4-49c0-8bb3-914663895cda CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4228b505-e60b-4b33-95cd-9486b6dbd187 CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2360f9b4-32b8-48e1-b916-ab8d35b04c77 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb23beea-4045-407e-b31d-3af4b0ea7418 CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf11456d-36c2-45c8-b1cc-a3706450248f CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7118a68-6c32-40d3-9c52-40a108df84f3 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cc506b9-24b9-4c91-ad1d-d71e8f765315 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e74f35-490b-488f-8420-a12fce983641 CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9a9e962-818c-4930-87b8-52c8ddc1df50 CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecacec8-8332-4c79-8518-a5d04d8d053f CLINVAR:532686 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ed82bdc-b11d-4ca3-8a40-ee2956544edf CLINVAR:532686 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea13222-85a0-41be-8078-3518fda90a09 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7642a018-d862-4b12-b5f3-374a84219da6 CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba5d021-1377-4845-830d-ddd6cf84a90e CLINVAR:532682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fddfc3a-2525-408c-b06a-7a9aa6939c91 CLINVAR:532682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a9b5b4-8172-46d4-91cb-8c77cbb3946f CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8cdb1aa-8934-4be5-9d9e-0f611b68852a CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53580bb-4fc7-4300-a748-2dd025a9a4d6 CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c21cccc-b596-4a12-8cd9-3b7878ea76d4 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39c4194-cc04-4030-822f-6f1c98ff283d CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f283606-9dd5-426b-99f7-c9f93a84cdbe CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1179e669-63ab-4772-a420-dff97c1c49d0 CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67c34ab2-77cf-4483-9675-c5acab1d139b CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0d9665-29fd-4b7e-93a5-c14296918589 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7f2d9ad-8c61-4458-9748-482c30a2a1ae CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf9453e-f20e-4006-98b0-2b61846152b2 CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a870a629-9edd-46cb-8665-e290eed7e4a3 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de25dcd6-697c-469c-8d16-fb0451d0b753 CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49f5fc2c-d97b-4600-bb3d-c6804699b1e6 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa27be6-ccdc-4ecd-a865-b1e351b0f9cf CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90824b2c-3541-4c2f-a55b-d4ff787ae62b CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb943ea-2fa8-455f-9a39-8d684f58ede2 CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9027f914-74df-4c24-bc8a-dde478b75d05 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe61435f-fe0a-48d4-89bd-34e22e711abe CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6095351e-bffc-4156-84b1-ba7ce078aa2c CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec77e9ff-e741-4147-8a86-b3740f52a026 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e5d67ef-3deb-4ac7-b6ef-88052adf6ef1 CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb662b7-c10e-47cd-920c-1eeb43cd159a CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66a68eb4-9d78-41b3-b8e0-21e0bd1a2a30 CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81402762-279c-4cb2-bde4-5d270b1684e7 CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e37e51ba-0114-4002-aa79-4e785235fee2 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2a3cac-a479-4da8-af72-fedbeec01c40 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb0dbdfb-f6a7-4fdb-ad17-45b793a148dc CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b3ddb5-c9b6-403d-aeb7-10de6edf62d8 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a621492-1ccb-4863-908b-e05a3c6463c8 CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646cf9ff-587b-438d-8216-b5c389a608c5 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4508e7ef-f4d8-4ee2-83e3-a178a22a7e5f CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b9ee60-1450-41b0-8099-7a5e095c15a1 CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26b2c32d-1d7f-4033-b933-cea5a170d7b7 CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6ddcfd-9210-4ea5-8243-03906e6dabfc CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13187b2e-4439-4879-99a2-985512fa9032 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37df8fc2-c6de-4178-87d2-d2569bf52ea2 CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 579f0d42-b07a-43f8-9d31-6bde89036ce2 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2463ceb8-6294-4cbb-b8a9-502cb678c3ea CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32e1b441-f66d-4ef7-b11b-317d0794b2cf CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acccb0e3-bb4d-4731-8bab-0fdafd0776ba CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95edd057-d4be-420d-9467-6525ae9e2b31 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4dbce1-3dd6-42eb-bfd7-9a009296b92b CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74413713-a880-42b1-a0c2-fb68db977223 CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12566dd-d2ed-4a20-9ba1-a6b88e0db9df CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0de3898-d466-404f-b2f2-f73107f58b14 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb4583a-91b7-4e0c-9842-a3fb5f149524 CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bc0cf1b-75b3-4872-8e04-15538857afab CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1c0c79-dbfd-4e5d-9833-a32cf3fef56b CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a775dba9-5e95-48b1-b1d8-41c162aff8de CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a38b7e-15c1-4a89-ae52-09c446491dec CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44e2140a-1d3b-4a2e-b699-73e03c364301 CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a25b0b-16aa-4681-b6bc-d3e2ee3e3599 CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c77c24c6-9298-48e6-b3e6-080745c44697 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e10a52b-6aa6-490a-91b8-72c28ce37c5b CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91078499-a0ef-4b40-beda-77b9d8473dff CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a3f78f-30a3-47f8-86ef-93ed095b06ca CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56300414-e5b9-4266-a1b8-699f06367884 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ec7e3f-30df-4d6f-ae58-19ce9003b224 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b23c908-aa51-4b93-8227-cfe1bfbe2253 CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add51e87-d00d-45a9-b8b2-7a4b7c2ab408 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9402a1cf-e9c6-40fa-aba4-fe2579de655f CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e79bbc9-7a65-4400-98f8-e1014d8254c3 CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6667380b-0f20-4b08-82c1-80e565ed44e5 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d968931-3776-467f-be21-d09ee0133a42 CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74e40e33-c24f-4df4-b9f6-7fd1ec0aa6c5 CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51d6e5f-c085-47c0-9ca2-ef5d7f2dac47 CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 385184c0-36be-4a7d-bde9-12b2998ae10a CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0445e9-714b-455a-90f4-f85395155752 CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21c1795a-4d0b-4a59-99fa-6d55b1bfddcc CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1740a453-d928-4cc3-84a4-fcca90dd7829 CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58be76cf-66b8-4c58-990d-41dad9ad4202 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af90f6f-5a18-44ff-8c4d-edbaf0e12c20 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1547a6e-206b-43fc-ba1e-c7daed9ea75f CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7223221d-95b8-480d-a827-5a12b7a31e15 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07b65556-2f90-4555-a9cd-3a0f707a98c3 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6512a52-e49d-448d-b4d3-17c3e2d3f46c CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be2dba70-7210-4193-828b-3beaaa2f50fc CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5359bc8-d91a-4ef5-b537-cf0001318b8d CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d45247b-6782-43b0-9817-08930d32dc09 CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb7a8de-ddbd-42c1-afda-160754a6fb6b CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8bd593e-511e-430f-b1a1-99dcf3c0e3f2 CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aace094-c6ea-4cc2-aabc-f0c7fcac1276 CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2162d1c8-9e04-4789-862a-dca160d33c54 CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0968a2b2-2311-4cd1-b719-100eb7d99f80 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4442692-12e4-4b8c-9289-c914378fe40e CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa4d884-7a45-486d-8c5d-0df445b040d5 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3471a01b-1087-4ac6-9b40-216067640f81 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d5efed-f14e-4dec-bdf2-c95c47038795 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a7e6b42-c6c7-453c-b53a-6879e000d922 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b5baf2-916b-4401-90b6-ed408d1f0558 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78c170da-83b6-4b49-91eb-980ff579406f CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6267f8-1680-46b7-9f4c-ecf425adece5 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 486d7f0e-1677-4101-b9a2-99f62f617808 CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b83b05dc-d6bd-48e7-b00b-a9a30c1d0e55 CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59375f60-c319-4f5f-b6eb-c768a4d8679d CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f24d956-fcb7-4485-b699-1687ffbc6cff CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deea1947-a1fb-4c77-8ac1-e356f7b9a0f0 CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0c6161-2446-4bb1-8161-93ff04743a2f CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 002c7779-bee4-4518-a928-d4709948770e CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46a2054-c186-45b6-8625-72c542ae90dd CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79229ab9-6f9b-48d3-ae9e-9418b357682f CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865fc195-640a-4187-b5ad-7e6750c1fa89 CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac80bb0b-35fe-43f1-b575-d827e120d2e6 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7f8eed-7646-4392-bd84-8380ce9bfbb8 CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 857045e7-a165-4c4f-88a2-b70d662e5b45 CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6b0333-a519-4fc2-a4ea-f8c701462b63 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0252ef56-2dbb-48ab-9a5a-fdba22a9fde4 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f95d6b3-7dd4-4234-88cb-7de7953a44d2 CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bbdbc8e-b1ac-439c-afb0-bb577379a1e0 CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220a36a1-077c-418f-9e41-fa84c13d1297 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7720987-4b7e-4a9d-8c62-e2ff2fec694d CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ed4bac-5824-440c-a683-4ccece475a1f CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7880d9f4-83e2-4c0c-be01-3e26fe374aa7 CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a271b52-dd17-4425-ae80-f068e4af896c CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 063f3995-d702-4e1c-a78b-a0a720a3379d CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c1e277-441a-4eaf-9d28-d96633b081af CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83750c40-525b-4a3c-b4ad-33208fbd98d9 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bc28114-504c-45f8-98a2-93abd1d132a6 CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8481059b-e3bb-4d7a-95e8-06298c485adf CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272eb26f-c98b-4f1f-9b1c-da86d0eb8ee2 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6b22b65-c03f-4e22-9b56-97e591bb4387 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca75e7f-b0bd-409e-9fef-8cd8df6f427c CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19c764c0-a789-4212-bdfa-c01aab55ed24 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf034522-4b08-4f6d-9f74-959339323c87 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3054a3f0-dfc3-4073-9a02-b70a8346b13e CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e728bb25-eb04-4fbe-ac71-0450d3bff899 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce1a927a-b4b0-471b-9912-9e982166f5ce CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2357d5b0-e114-4f67-883c-88da625a85c2 CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe709be1-c136-4492-ac48-5fe19d18e95c CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49873a1a-c3d1-40dd-b268-eb1ee0a62990 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36d15459-b4a5-464c-81e8-44199ed18424 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55200c76-ec7d-41b2-b31f-2508d1537897 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f01fd7c2-ae8b-40df-bc38-5fc09304359a CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d227f69-3dc3-432f-82b3-34e66376a8de CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6baea1f5-e4fb-46d6-867d-2eff5aac02cb CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dfda65-800c-4485-9847-8cb600b5d605 CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ccf9272-965f-42f2-9aa4-1ae33a01af82 CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5249cb6-df79-4603-97b8-37639358c65c CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6580ec46-3e11-4c57-8cb7-0d074d9c7238 CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3294a3fb-c172-44ef-8290-c8c100a198e0 CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf699882-4172-4045-8cee-c72d4b80be76 CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802f35bb-5d29-4e32-8363-ec1c5d95d95c CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc4e9294-0134-4620-bfa4-8a41d415a16b CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71da92db-6b11-4d95-9ae2-66972188e4d0 CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47a41628-2641-4ef2-b4ca-d942a40a4555 CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2343d9-2b3b-412a-91b3-3ee5264c4eaf CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb51efef-b19f-4102-8263-c55c029ff493 CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b01da5b-41de-4a3d-b0a4-ec0d6bd3cb96 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a5c6aa0-0b45-4303-8065-d6395157f4ff CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92b29bb-183b-4a4f-9dac-680c172ef913 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64bef3fa-5f40-4a73-b8af-da0f06d36d6a CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843272dd-827e-4eb1-81a1-a28a70e3a9c2 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5b99d37-83fc-4f41-996b-7fab06493f0b CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83f08b4-c3d8-4a3e-967f-7aad8e33eb59 CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9fdfe1c-f85b-42ee-9626-e6c522576ae4 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dcb0af4-de2b-4240-aae1-57afd4cbc1d8 CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50c6d77a-3917-4764-b755-ac8ac82783ce CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4c6f8d-0ddc-4760-a5e7-1b493b23362f CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 792104ce-4624-4baf-8e18-fc56e02a4a4e CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730299f1-ca63-4f24-903a-c6cfd1c72a5a CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8fc96a7-3055-4e4e-8186-b0d46cc5fcd7 CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae0a980-5e5c-4a47-ae6f-f575ce02a693 CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b450cd7e-d744-4d51-850a-0e313e613fed CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b802d2e6-0c72-42f2-9d54-3dcfa312199c CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b68b872c-49f7-4ea3-9fc4-2f6a0f264e16 CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fcb09f-1d64-45fd-8009-51748a1a98d0 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba6c6a1e-6ac9-421b-b8ab-ec4f0e390047 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3401d1dc-90a0-4a8e-9286-0fd6f1d31378 CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a3dceb7-3a20-441b-ac7b-a805ef78548c CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1853f5-9571-4fae-892f-f6a72fc6c23c CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bddef5f3-f178-4dfc-b46c-75740ecfbe3b CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb27842-52ce-4010-86b1-520c1c5f20d2 CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5da150c4-2286-4b66-98cf-ed7214dcd7d6 CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461cf90a-4958-4363-9507-4934560c7561 CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 296b98b1-3e16-4902-87ad-eefa7baa64df CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a830405-a7ed-41bc-b11f-683bfafad8c7 CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a5734c6-6c40-43bb-88c8-0de0f679d93b CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e95e01e-36f7-4c84-8db6-7974ab56c1d9 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23375be0-e09a-465e-847a-ff9a8f88bebd CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7331a24e-6c6e-4626-bb16-fa0c9069ba2a CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84972562-1cae-453c-9ed8-772ebba4278a CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825afc60-fa5e-4fdc-8d30-9dd7c6a6c71f CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a900033-4a4f-42a1-a37b-67c60fb492b8 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709fce43-9336-4b70-8667-4adc168c5a2d CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54ed07bf-1598-4730-a41b-024836dabc3d CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c83a5a-1f2f-4468-81c4-10a2342fc8e3 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60f11665-f7c8-497c-b192-d3b89a463eb5 CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9ec08c-9c19-4ed5-ac97-bd59d5e55f40 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3064efe-a823-4ee5-ad0e-76b81b76d25a CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cdc365-8baf-4da8-a781-aea6fcb344ad CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a40f0f39-7e9e-4dce-911b-59ff06329ecc CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6df2344-8e45-4594-bc0d-f9695667fbcc CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 195ddd20-09e0-49f7-819e-d4df582303ab CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe5df1e-181b-4f21-bbe4-c49780e92907 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ec42bb7-9b38-416c-9be0-7de3c32138c4 CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ecafbc4-9e1f-4296-b4f4-75d7fad5c547 CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2b7f23e-19ff-4c64-a3e4-f9b63942eb00 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5918e7f-bc22-473c-8ff1-ca67efdc57c4 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 761d8c67-a16d-45c0-82cf-a1696183aa72 CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f726d58-c576-4e3f-827e-14da7c74aca9 CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c537b90d-f6ba-46b5-8cf2-31fcf2beb91d CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96cbf70-3842-49d4-ab94-af3b95f0daa1 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ca2a67f-2dcc-4a8a-af85-836b6fecdcf2 CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32eeefb-129c-464c-b5f3-07d59d203cf1 CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3cbbf0a-e522-40bd-907d-544cf2237c63 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c9e760-d8b8-4ba8-a499-a979eecfad24 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7795f5bf-9b59-4b8e-b442-2bfe89495282 CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875666a3-8a85-456b-bfa3-68e2b56949d6 CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ae197b1-4ca4-4019-b543-835dbbd92eee CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba478c6b-de5e-4d05-ad74-aab3e6a43c47 CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e0bb52c-a814-438e-8289-99b012d7bfeb CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b44c9f0-60e3-4a2c-aaeb-65d767cad6f5 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff2bca3c-d862-4833-9eff-f741ac8d83c5 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ebc1c6-7255-4538-8683-cda89d987dfa CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4be16e0-a77d-4237-b4cc-885e65157c82 CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288d3401-6e78-4031-9399-c593436dece9 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af8286f8-8748-4ac7-9315-80681eee235d CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 400e9dd8-670b-4d58-b443-59f93270a01c CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b185bc6-be89-4295-aea8-0681a69f59d5 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc40bc7-714a-4175-aa8f-30e34e8c9820 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7adcdd13-b139-44e1-8419-98adef8bcd29 CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b52bde6-4ee9-4ba4-a0b2-b494cab82f64 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0367870d-3355-44fb-b61e-4981023bb9b7 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5463025a-0ca9-469b-ab3c-09a77a0142e9 CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a250fb63-80a6-4345-9d7a-a260c9bb52ad CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67623a65-6181-4cb4-aaba-d255be821c07 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa84eff9-575c-4d53-8bf2-5c95ff04d8b1 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f5b1a5-141d-420e-90ab-ee1e745b062e CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a15a770-30a6-42ad-97d4-96296a207292 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc22bab1-dcbf-43f5-9895-4b6097f33469 CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d14c12e6-defa-4388-8c72-25146497560f CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abbc2a7-c05c-4fdd-ba9e-81a07a7ebaf8 CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02eb4262-0c0a-417a-b315-02573cd6568b CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d4b9b9-5991-4cec-b885-cef9879b3fae CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a85c33ce-9f2d-4d60-be33-ca7732b64596 CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d20639-11af-4228-a8ce-625034ace90a CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d432295f-56bd-4aa8-89a9-30caf4ac0565 CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4fa4b3-39f7-469e-b26b-28a1eb1e5935 CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 716c086e-1c6c-494b-ae00-e9df92020a3e CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3b3c82-daa5-426d-9dfd-6c76e7aab6a1 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0b6ae12-6ce5-4ddf-accf-c996cec55c21 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d43ec3d-313d-44d9-9861-2630e062257d CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba6229ae-8be2-4c23-85de-049b0ec21d08 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2383601d-2a46-45c0-9177-141886c47411 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8789324f-5b29-41f3-a5e6-867b409ec0de CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0bcd2a-7a30-406e-b188-239adc9e4414 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ac1377a-3763-4e5c-9bc4-d92abd476f5b CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78c9e63-c5f8-4a57-97b4-5add2b9259d2 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c220c265-df82-40f0-8bec-0ed2d79c09ae CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe9d2b5-1d70-4fbe-8501-0e2a7c2dde27 CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4204e52d-85df-4cd8-88fd-4534f27572be CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae0ca8a-5c69-4486-a6ff-9590a5312324 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ffbde24-88be-4079-80d0-33de49e465ea CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed50bbd-93ba-480e-91c4-a38c1e3d7821 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af970f1e-9008-47e9-ba91-62c649da80d7 CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d407683-cb52-4fa4-baf6-1065f68221cc CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e615f03-49b0-4dbb-b47a-cc5028eb064e CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10817eec-b40d-46bb-9e96-acb8e33e94f0 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b337c99-42eb-4530-a663-1dd5b96d55f5 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07204d98-52f7-45e4-b659-05aa3d48f70c CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c07c963-f8f9-47bf-b364-ea57f6f7c1bf CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f9b48e-1167-43ae-acbf-eb839c544666 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec78953f-036c-4d32-9130-37be41e2c83c CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689369a8-dfe7-4114-8831-00ed137e621c CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82e68b53-522f-4363-af64-454282d0b040 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13126f83-0733-45cb-9a4f-5762abd43708 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d181a996-50ee-4c92-8c2c-77f77aca378b CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d010fe-3374-4126-a16f-66fe0b9360c6 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9da9a26-b7af-4ccc-9a12-9074679ab362 CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59054d74-35bd-40a6-8a97-e77f91302681 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6d4c06c-dfb7-40ca-948c-792572c7c462 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e32be57-1835-4631-95f7-14a920773145 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3db94956-fa02-4d3f-a573-1ab7ad00916b CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d086cd-8f68-44d9-a3bd-83738c8ea93e CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd7e3829-3d8b-4b15-ac4f-3edf0b2f7ff5 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8314fe92-41f6-48c7-a22b-66cf1be8ef2a CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1a8343c-0803-4ed2-850d-7f89263b1c13 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3db227-e3b2-4773-89d6-3f70c5117b79 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7532104b-256b-449a-a4f4-7818f9e1d1ed CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a69809-b2e4-4c75-850b-22224aa64320 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7e32f79-bcdc-40f1-a851-b47ee29fdab1 CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720dc52f-e6f1-4978-9fed-e1db634dfcc3 CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a48c3d7e-778b-4353-9096-ea154b896426 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb21638f-6c5e-4821-9ce8-3d9e23863609 CLINVAR:127823 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2de640d3-fd74-40e6-af48-3e46fe4b6bda CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dabf8d0-37e3-438d-9210-c97565993ff9 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f62c7191-5e18-4d18-bdd9-20833acef734 CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379c127b-c14b-488b-bb00-5e1ac8fcb884 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35915bfc-e777-4db4-b9fd-76692d11ad52 CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039f2f29-810e-4227-ab12-cfb7a5ec9581 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33c36871-ecf5-420e-ad71-703eb0195279 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a84c352-87b9-4f05-b258-4a9807ba1ac9 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1cf412c-bcf4-4d5b-9216-aa81a0bfe324 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec11e13a-5673-45bd-9fcb-5b62ec51cc9d CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e066dbd8-ee60-4e8a-bd67-111fde69167a CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c341f2b5-d2cf-4563-bfae-6f7654c16577 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8e96db0-4ab6-4946-8d2b-c5e9d853303b CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654ca614-3abe-4c20-910e-1367063b8397 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b20b0cd-6724-4bad-8fee-04803d06df46 CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25fbe7a-bbba-4618-ac6f-bbd17d5c3f67 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b72f7fb6-bbb9-41fe-8535-a918c37d5257 CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd3ca3f-741b-415e-9675-84f6ca419ce8 CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5187e2e5-98af-4113-9e84-e899c314342e CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2baac446-608c-4ca1-9821-067c645400ae CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bacb217-a990-467e-a540-5b306b14bf97 CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb52e58e-f06c-41d8-a427-887b5f4f2303 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f937d09b-c895-4068-9934-6c17a1bf2ab0 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eae61ce-8e45-4395-bc3b-1ef88ddf0fd0 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 038684db-d2a8-4556-8aab-b4d7bc0521c0 CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5836a8-0583-4e41-a6d8-a6f76872cc3d CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 956be9bb-122f-4882-a86d-5dd2a12cd293 CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83ea5bb-7a01-48c3-adad-2a5581d7f08e CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa1f420d-77a6-4098-8750-2a8cb8e4c9f8 CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724749c2-12de-4c86-bed6-58d8b6bd82d7 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcb7a8dd-d438-4d2d-8bc6-8e6fad56d4e4 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038fa29a-3efa-413a-9d6d-69d9362b8f4d CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47d6e45d-565d-4c1d-be39-f3c62f1d95fa CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47f29eb-dc95-4d0f-8839-0b1d442c54a9 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9da364d6-ebe3-4ffd-8138-4b70704307df CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d04bf6-e0e3-41e6-8f29-e5f45c07c8be CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63f60a03-f61d-4134-a582-90b0c90367bb CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd327694-aa59-4cb3-9cf8-59a2cbc7d369 CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05a1898b-c59d-4d60-a07d-548627b03677 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e740037-f5c0-4629-9e86-bb75173af239 CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bc1d957-1821-4e49-84c6-7b3fc6a155d8 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d8db229-f690-4242-83ae-9ca535b34144 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa3dc788-1b25-4bf4-9982-4121d876fa96 CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71efe8a4-a0ac-4c83-ae23-aef0ca176d4e CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a450ff9-dd2d-40d4-bab3-a65a641744ea CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f08dcc3-1850-4c60-a7ba-f5bb07618629 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e4c44f-73f1-4c2f-b59e-19e64704bef0 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a564cd1-3f3c-40cc-a30c-1f69e4ca8063 CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09a2f5f7-5174-4e20-819f-f0c0eef2fe12 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d98d4f-c581-4c37-ab9a-b1f08f792fea CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 773eb7f8-52db-4f58-aed1-2c31f61c244d CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2dee31-8abe-4020-8c34-445ecb20b838 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36d98ec2-9a6d-438f-90d7-cc91c7cbefec CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae0a38b-a4ef-4a32-ab5e-26a49bedcabf CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 543f6822-eabf-4e6e-bf0a-dc9ab0c9bb20 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d053e7-7ac2-48b1-a013-6171b09fa48f CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18c49793-a39c-47b5-98e3-db91881d495f CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12b4eb8-e8f2-4201-9d95-ea02114181cb CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5069480-19bb-4fd8-af21-54287a94e34d CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfbdf5f-a382-4edd-ae34-5f1d29994e93 CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d5d05b8-c66d-4f5f-94f2-d491dd8490d3 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e12519-420e-4027-9d17-9f3e4382f157 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f138456-5887-4b9a-80ce-d38173fd2e04 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545fe201-3c0b-461c-b36c-890b5f4a2b45 CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen febc172b-c6c1-4a5d-8718-618517fb539c CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd436f00-66a0-4c3a-8012-5a0bd59cfd58 CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb164a3f-8f26-4b5a-8321-8dd5f6d79a8b CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6d70ae-2269-4444-850a-d24fe6b1422a CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c316d321-2110-412b-844d-1c52fffc9439 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24860a20-7feb-4a69-ad83-3a36cd1b8b20 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ac26ddb-8fb9-4e22-9285-97029451dcbc CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9243f623-0080-4208-b852-45438c4600bd CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d6ebd3f-74b0-4f34-b1ef-1b2773c09f5f CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e54d42-8085-47c9-bdf6-cb08cd424235 CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81dced17-a209-4cab-b4d6-4a40e34fb393 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9859dea0-b637-47f0-8526-7f4624124f45 CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c6ae653-8b6e-4494-894e-cfdd90996ff8 CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06fd068-759a-4557-a2a2-ccacbd68a253 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29e0e1fe-2ed0-4683-8922-0ebca05c3813 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3aab11-c52a-4cee-a1cb-37dff9285ef0 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de6e648d-6727-415d-adf2-df264c9d9190 CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900dc25b-0f61-438e-ac1b-b79b91dd39ab CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12134a9a-9791-4285-b1ad-33bdfca3a32c CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30eea8cd-7f85-40bc-849a-1d9d85b8cb99 CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2c2931b-5e68-4817-89a6-f405ccbfd4b8 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369e3792-4d33-47a3-a601-b22e868878b2 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20e9752d-6d74-47b7-9e11-c563c6e4ba23 CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 203e4ffa-043e-407f-b571-c1fd0f860a1d CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79a7c862-89f9-452e-9170-ca14c0a82e09 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a70d372-7def-42cc-8306-4f2d38a60665 CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a081676-4c50-40ed-8be5-1179d360e1e1 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9418b7-86a3-4cb3-b34e-657e116e193e CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 190214c3-318f-440a-832e-098381312342 CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f623ccec-ff49-4ea9-a130-d855bb793c82 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46dec2fa-f832-41f4-8014-71d4f26d5406 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71774a48-8818-4f5a-a751-0f4449c68d74 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 520d9eba-f185-4f6f-a391-9d3536615b95 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5aabe66-f61d-4982-bc42-25864afae6f5 CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6eba1ee7-c797-4ecd-ab64-7d963700143f CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e842fec7-1bed-43d8-a600-ea5f69f1e4da CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c38feb7-1976-4b93-91c1-1edf01385cac CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f637e994-35b0-4505-9f31-d4507156471a CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2970ac30-d891-477a-8d35-a8442a8a5984 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeaad2db-c963-49e3-868c-6679b29bf327 CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ca71847-6c94-4716-bafa-5c927b1d2cf3 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b0adda-d345-4886-a693-036d23b19fe8 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5085f146-394d-4e1a-a189-0fc7b70f7ac5 CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c39ac00-878e-49b2-b1f1-949eb0b758e5 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1262c8dc-8649-4a1b-80b7-9cb243d5ca80 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7deeee5-2c6a-4305-9534-490c45d033ec CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78789588-abb6-44c0-92a3-5c3b3a28f475 CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118f32f4-eb8c-49dd-9d25-e46371bedfe7 CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43630836-a40c-42c5-a3a1-44e2746353fd CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a30bd2-2bb0-4bcd-b91b-7a683db1dbc5 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c005bea8-5833-4eb2-88e9-a661f960fe98 CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f8f2cd-1436-4a71-981f-58742d9de28a CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d61b491-bdbb-4981-9e41-17656fb90ae1 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd20da1-54cc-4ef3-8b5a-25c3d9e804a0 CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3725c4ae-b375-4555-b61d-2e3014f44e46 CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac867e7-9d5c-448a-a271-2b37d6fdd324 CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2e4fe62-6c4b-4807-9f3a-742c96656e09 CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5711dac8-9018-4d9f-9603-c77726a15ca3 CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93f34e9e-71f7-48bd-9073-7014b71395cc CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454b5545-254a-4afb-a583-94513f752075 CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58716eed-c14f-4bd2-9747-f94ae59aff8c CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4c6f34-4a5f-4580-af11-ec31166914d5 CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9265dcf4-a256-4bbb-89a1-70afcce0074c CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de424ef-aae1-4fb9-833c-3cd61eaa8b77 CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd28b451-27d2-4285-a12b-ca501867d9f4 CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232a9fe9-9ca5-491b-828d-87b624d7004c CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc76b5a8-1fa0-45c8-8b3b-5b9fb6695f62 CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9deaaa4e-eafa-4d35-8e3a-54adaec3427b CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d343a4a4-b3cd-45a1-bcf3-4897861dee05 CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d99768f-01f1-4d2c-8811-81a67e729e75 CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aabf1e9-96ac-4632-b789-70a059f477a3 CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638cb472-32ac-49f1-a27d-7d52e292b879 CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c103dfef-9614-4feb-8170-815f7bbbdf28 CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc2d669-dc53-4857-ba03-7d1225bba410 CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e66536d2-ebe7-43df-a0c8-bacb5423bf3d CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5ab72a-3879-4de5-b80f-82a248002f7d CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0c37482-6d55-40ea-88f9-e243c6e8c5dc CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1c43ba-24aa-408b-beff-42ba53584d75 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 789d38e7-c0d1-448f-9303-4b0999bb8d5a CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff47fb6-a829-4ffe-8c74-6c5ec762efbf CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99cc27c2-06be-4cd5-9434-6d6d0ac6b941 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8303e863-af93-4ea5-9f8b-e52b233b8a1b CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e43a4421-d1d6-4262-a3d9-5e0455f44356 CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09f649d-1e11-44eb-b7b8-fd2c1181f0a4 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba7d9ec0-df0b-4431-90a5-2e924b933128 CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbe630a-4de0-40bb-b77b-0cbf99a8a12f CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3222099-77e2-4f68-8933-44376fe44a87 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c0d20d-f67b-4364-9077-f2769c64cc83 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b95b6dd8-6e23-4095-9deb-6b3dcb0f7198 CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd5d465-0c93-4532-ab40-4cc449b9b486 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78bcc887-28bd-4f11-97ff-8f30ddffb42e CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6ddc3f-b5e7-4d6a-b7b0-bbd9bed4cae4 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5313e9f4-3918-4dbd-9523-fa5718105b40 CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb27765-776e-4221-86ea-2ef23de1027a CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8e1bb35-cb58-4f1b-983a-baa5b743c53c CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c8ac7e-6604-42dc-846d-176c0f5d97d7 CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc91414d-55b7-496e-9f63-97756345caa6 CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961c1687-3854-41b6-a958-3b8710bb49e0 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24b752f1-d793-4ea5-b30f-fbb8dec82d0c CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65901a39-7e2a-4460-9335-4cf4a52f9c9e CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d369691-f2dc-4821-a817-d32867ec59e2 CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c918d7bc-ff29-4436-92ab-1f163a37f7fd CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d7bbc01-c398-4a8f-980f-7028cf23d2ae CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7fc6d1-1529-4042-9d3d-451a6cacd47c CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4fde135-f488-47e3-bcb1-4a8d5c1d5b49 CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c25351f-dada-446c-a364-b60140a374f2 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 261e45e0-6fa6-4050-8d95-4a266bc6d43a CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cafbf60-807e-47c3-b47f-3bc44e6ab7e1 CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f2270ae-00e6-4535-945e-73ca7ab1b975 CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f98858d-cc81-48d2-b0e0-596b8fc94389 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f251080-e61f-461d-a262-f72a5c81d7fe CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fb431a-39f2-46a7-abdd-e9b8e0e6d33b CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8190fa79-3b7e-483c-8238-f795c297fe98 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2be21cc-8f87-461c-8348-1903242983ba CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen acd1e0f7-31d3-4d53-a021-f178ef9ca454 CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669f8f97-ac22-49af-bb4c-58c419659896 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e04e1170-7423-4699-82f9-f0bf3b6c4acc CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d452544c-1f16-42a7-832e-d04224198ac2 CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f846a74-d100-4037-b88b-dc637db3d6d7 CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fd3344-137a-4d87-a3da-2de100ca871a CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 325d57d9-0955-4bbc-b0de-6c91711e5a23 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b665d508-abe7-431f-9fba-7de5c8d9ddb9 CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b3fc7f4-ba4a-4709-9076-9314dfe75fe1 CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29da396-2465-47ee-9c33-4369763952c3 CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8a56350-219a-4225-8f10-3470507d923d CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cd3148-7ade-49c4-aaad-b1c2384f183a CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5034d0b-2b3f-48d7-b077-8731b316f646 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea77ff5-d8ed-4ef2-a3d2-fd1635770260 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e8bcb5d-43c2-42da-8320-0d38d1607ae9 CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7712df2-88fa-4324-8915-b863a535af3c CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fcc2092-d993-4c4e-bc57-98eb3b09af48 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b77d478-3790-48d4-a774-8c3e54630845 CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cf1dd35-3f2b-4826-bc7a-098b690de53e CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d471882b-2e34-4d71-9d86-92f70af15b2c CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 889195dc-5f79-4a96-8fa6-d20ab0d6236f CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c47b3b8-a178-4029-82c6-f24a8a271385 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3a0a41e-6800-489c-9c9f-c78b30f71ef5 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e1ef12-093d-4e40-a8ee-eb8768b14601 CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db42e813-7f53-4c72-b45c-81d83322c6a8 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19a8f78-eaaa-49bb-ab90-06930dec2843 CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ae625da-2292-4851-8d72-b8fc1119b260 CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2f9493-7daa-40f5-87c3-ce270d92d5c0 CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c7fefec-6a7e-4aa8-b092-16b927033b07 CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd496406-be3a-4d92-a4bc-d04f2ede5c32 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3435bd9d-df9b-4ceb-b8a8-c4996b73fd0d CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0954e27-5bb4-47f9-a20b-ee22980deb48 CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4a29fa9-c781-47ab-9ace-5d07feabe30f CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3c922c-9569-4de8-91ac-1414d59f76c6 CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e047b9f-4ff9-48eb-b319-5ae1226c0e4b CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17cd1f2-d3bb-4f34-af4f-f183dd86eccb CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 727448a6-67bf-4aa7-b435-92eeef5eefb4 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb8da90-22fa-4248-b6fc-17e56fead6e9 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f8b7144-9c1f-4cea-963c-af85de2fe121 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af885a0-d4eb-4d11-8571-b03c29d912a8 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7ca22e2-8d7c-4461-9b0f-6792ed019b19 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade18a7c-483c-46e2-9180-00e40da3fd4a CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8df0529c-f2e6-47c7-b22d-6614a6e99b41 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de521c1-342d-4750-99e1-1d23306b0e0c CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9f44132-4df4-4056-a64a-5f62241a553b CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a43a0a9-9023-48b7-9a36-c2688cc0f09f CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7876eee7-86a6-4aa0-9284-d29892480c17 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cc79f4-284b-409d-8afe-43a879ee5712 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04fb5d4b-a0bc-42af-b7f5-0185e3f5825b CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56aa159-18bc-436c-8707-6ab2a7414f4a CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5a9310d-22c6-4d08-a382-13007560306a CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3532a609-ca90-40a1-b4e6-2ccdba7704f2 CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b06d0422-b0ff-470f-a809-3ddf846093ac CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e908a5e3-6b09-470e-a822-89372b06689a CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8651215f-1486-47cc-ab8a-43d968a00778 CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c13174b-6ab8-4dbe-a48f-17db12f320e6 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aa9bbbb-4d58-4c10-ae0b-3f375fba37cb CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d12cf57-8361-4f73-8bce-55976d9acae6 CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26bd8391-9a9f-4f2f-96c3-1cb0ac86e58a CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c922e6-c896-4f51-a735-4fa373544f84 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ec6386a-57c4-411e-bdd2-75df752c3d21 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15a23ba-109d-4a22-b941-49881d42e398 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce05ed08-c90d-4c84-9646-058d2723a378 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c64dd6-6571-4367-899f-de7ac8630c8d CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 937a56b4-5256-458b-a9db-ae3aebe4e541 CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d44c96-22f8-4dfe-b55a-2445168b9bcc CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22d92db6-ee84-4234-9ea5-3676a3d82ed1 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234b58b8-a90d-4d77-93c5-42c80cb68b39 CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b44883f8-a553-495a-99b1-aef462f82b5c CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bca174-d88a-47cd-8d63-835a731a56ee CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d1dca6d-5b86-4cbb-a198-a76f07648b4f CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d77d20f-9ab8-4e45-a5c7-a51e349b1211 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6320623b-6a1f-407a-b34b-ef430ef62046 CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6a3f69-afdc-402a-8626-032bb4e4767b CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae5ee647-1724-444c-8686-779afeca9ede CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df0364e-f6a2-4bc5-9f74-dfbfb5e2ee1d CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc000794-da13-4ba9-a7d9-fe2c54811dac CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec06301e-2f07-4b39-8667-d0dbd29515f4 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18eec195-7d52-4f6e-a1bc-2e536b274642 CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7aa9138-502c-4406-b5d3-caaaeac980ed CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fea918dd-b063-4a66-8723-9802ca7619e4 CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df71b1f9-f9b8-4453-a722-4fdd7fd2df71 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b6f0fb5-4a65-47a0-a639-b249c06f238c CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cc4bb3-d381-44f4-a658-827eee3b5c08 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5887176-9d68-4648-b323-d3872cb3d1af CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703cca7b-bad0-47d2-8ab1-b7079f46e448 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b742986d-0ea2-4ad2-9f06-908037e0d343 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b693e2-bcac-47a8-a591-9b6b8a8eee10 CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 089ff0af-bb57-49e7-9259-665585d504af CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1be7bd8-299e-4fc8-b87c-9cf97c7227ba CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dab61427-21bc-441f-90e0-7806a236fd03 CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ad8b2c-3564-4522-b5ac-402fd9529cfe CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23c50ff4-1450-469d-a652-e9252bf577cc CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e32ee8a-be19-4c49-b495-07539fb04ad9 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85acb38c-b8be-4f06-bb8f-9bb410b0ec50 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a721172-782c-4360-805d-43345c0408f5 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56721c4f-0db6-457d-aeb5-8433caf789d6 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e1c4dc-df28-4210-aae6-05bcbfec4e97 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00af8844-6fd1-4455-9e08-c294d287660d CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6cf156-e2d0-4727-81ba-a0a559206d9c CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ee0697e-05b3-4818-a7c1-e573d9232e36 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09f0f2c-1e87-40e6-9b02-d67a34013987 CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa1ca76d-7202-4c24-8a35-add12c45ab65 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870a384c-483b-4034-8d75-ccb5e4415957 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0af406c1-3bbc-42d5-9109-d870cf4a34ba CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 642b0536-a235-47b6-bf9c-96bf5af5d041 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f787fde-855c-46db-995a-7ca00f145eb4 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825dbbbb-4d8c-4b2a-8240-1220cc4e4a64 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f58a34c-8000-460c-b667-efd56f6bc223 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5126ad-c8a4-4cd9-955c-dac1fc24ebc7 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49cf31a4-ebf1-42ec-806b-9d62055b91c3 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26493f1e-22dd-497e-9e54-253983561894 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25227322-7fc4-4c1d-8ed1-a46b1f3e02cb CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09eeb86c-07b9-4e54-8715-61a541f7a7b7 CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a91f891f-a827-4fc1-8b3d-9c82b161ee4a CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211fa82e-82e2-48cb-b672-eea53c73b305 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29011363-9bfd-4a1a-9751-161da5c5ed8c CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7fbe92-7cbb-4883-88cb-3ff576a05df0 CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7939d5c-60a2-4bcb-9c5e-6c316a8fb59b CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00dbdcb4-f189-4634-80ac-48b163ed79c6 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e048210-5b16-4006-877f-d648cce2e551 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c40d64-1908-4075-a57f-0f643f8f93fb CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8a92ea8-914a-4f43-ab39-aecc4dfbaf5a CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37376b59-5cfd-4464-89ad-6e6521cb2a62 CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df84a85f-d18f-4f24-aaf1-f20c0f6342ed CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead4183a-2927-4ac7-9d23-1124eb7f17da CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d73e0168-fef1-4a61-bc84-4a257715b736 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e527e32b-df9a-463b-8448-74ae45278062 CLINVAR:376021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6820a5da-4d08-40e8-8f92-518b95c5ac6f CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb21a68-4b38-4f57-a9c2-80713fd22067 CLINVAR:464006 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5547c978-20cf-459c-b57d-0337b1c9c8e2 CLINVAR:464006 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a9693b-b1f5-475e-904e-9f27a6de2127 CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3870f738-123e-4ba3-b2e9-db373db6296e CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817b3c38-c019-4462-80c9-1d04c1715f41 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04f93df0-8de4-4af6-ac80-9a5ffd252e8c CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b7c492-4101-4d27-a491-bf878edd3f1f CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a562e4b8-c5ab-4048-bab4-6e317f9e0203 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc17795-71f9-4d6e-b575-a017d7adeef6 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78c14d06-2e1d-4bf7-a3c3-7feb57385d44 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87376df-34d2-43b0-8075-30eb994eee58 CLINVAR:376019 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6558e644-b26c-4242-ae76-ec75252350da CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc20636-508e-4f59-bafa-b8514cdb7c47 CLINVAR:376020 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd459876-8346-42ea-a079-bb47a53bc8c7 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a239a8b1-381e-4b72-ac3b-cc2a2f9de52c CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9c6ecbf-b610-4839-a658-292a9e5e8c44 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaaeeec7-a766-4e11-85a3-09433edd3fc9 CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 985ac0c0-c06d-4b39-b748-87a18a6157f1 CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e0505d-a47a-48d1-84cc-a685031f5a31 CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02410752-727e-4b51-ac9e-784f649e8e86 CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a282e2ed-b227-48eb-bf47-ce62aacddb46 CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d31a2dc9-ab3b-4ffa-878f-c04b2813e8b4 CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4453f26-948b-40d1-a36c-496797ddd018 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86589764-e285-4500-8028-7928917c4399 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da2d043-f654-4bee-84a6-a1bcc440e7df CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d56169d9-ff00-4be0-ae1b-6bdc596b24f9 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127b348b-1379-4b9d-809a-9b1166888ff0 CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1cb04b9-69aa-4704-ac8f-1f5ff80abd36 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef34b11f-8c22-480e-8343-f45c9484bb16 CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fd59154-bbcf-4f4f-a671-a6345eda5780 CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58552d77-37cf-498a-b0ed-3862bbe89594 CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 063e13ee-3d7c-4715-ad6a-6818712d0e13 CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451efb6d-6b50-4208-a32c-2260beab1c46 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a4c5922-1951-43f2-8ef9-de5014c6c6dd CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378845ff-6067-4c50-a99c-0c91fae294e5 CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb48c22d-eabe-407c-abe5-e4cc34c2c393 CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01c1c7d-bc37-45d4-b86d-c1fe1463ec13 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 063e55ea-4ab6-4c33-95a0-480eddc84e04 CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16b9a8a-95e2-44bf-a864-7852f0245ca2 CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 579a4364-e1b3-48ee-a353-e70cfdd7482f CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfca3774-3649-41d4-913d-adeeb083dbf6 CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2e9c1eb-4d57-46ba-ba9a-4792063bf3d3 CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720f6aff-79e8-4431-9cc9-ccc27849c555 CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 488838c6-bbe0-441e-9ccc-ce14d31f49da CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565d540e-e5ea-4d55-a6fd-612e367c6d56 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e74ddd4-af79-4536-b463-ef362c39ee3f CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af7156e-4642-476c-9c91-004f58fee93f CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1201596e-6666-4d23-b71e-45d78c60f1fe CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea6a62c-58e1-4f7b-971f-6870fcf217bc CLINVAR:953020 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec636018-4bc9-4f86-82ae-974d72ff9b04 CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48b8ec2-4773-4f91-8c50-a2f9194e0ab4 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9224a834-ecaa-4750-95aa-132182b2173e CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2e45a1-b63b-49a2-bcff-cb5a92a2afd7 CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9deacb87-f0dc-4082-bfcc-fa5371554730 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0854d058-2631-443f-9d97-48527f5f0062 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eafd362d-693b-40dd-88f4-fc8b2c9a8ef8 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec348b5d-5a6e-48de-acb5-a06f089e74e4 CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3e43ee8-e8df-46c6-b440-0a40c3d48edb CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e75a62-f220-4cef-8aa6-313b4f888054 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48a88cc5-3f36-4aa6-ba0d-20753f0ece33 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c999a9-126a-47b4-9104-cb5f7edcd292 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a820469-7b18-4c78-a2be-f5a98cf17d1b CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529391b9-5d02-464d-8092-87572b7259f9 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cb8c9b5-b266-45d3-9db3-cbe6e53ff46f CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a8e728-a1c7-44e2-8976-cf42df572daa CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5892081f-241b-4991-8a3d-0a654c092927 CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ca79a3-f250-4082-ad64-c62dd1c26cbf CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebf20928-d9ca-4884-8c9e-d81061fe9bac CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230d4e70-c97c-473d-b701-c87c6c37bacf CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fda224c5-e55e-4ff6-b7fc-37770defd332 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4666864-ce41-473a-b98b-d918f243729c CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d7e812d-c2b4-439b-a856-2c2b23b9bedd CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0559a41-b237-4cd2-8f45-b2c025732038 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35d6ca74-800f-49f2-a50f-ee94dd005156 CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de76485a-7318-4eae-b48f-4a91fee32d84 CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d1eaa66-84c1-486f-a629-6059976c40a9 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1875c1f2-6cee-4ade-9149-8d7318cb25fa CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4d2c472-df7b-42f1-9699-6d52501d9d52 CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de44f2c4-0bef-49b2-b77b-d32c0d3ca624 CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67ff4285-3bf7-4227-8b63-2b021afe4da8 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4706c223-921f-4d0f-83e5-4e0066d36758 CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb720902-4993-4d49-839c-0589606d417d CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305cbab2-dd4a-40ec-88a3-95d7e1c7fce0 CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af07403d-c886-43fa-9f22-e918cafd9b21 CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b29b82f-2939-47fd-9a24-32ee8a759dd0 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c451d448-efec-460b-a390-9867b3462aba CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8becbea7-45f1-4067-902a-da1c3f217670 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e2d212c-e775-4a58-b8d5-13d5f78b6aa7 CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85605783-4324-4b89-b48d-57c321f55f47 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a77deca0-a27e-4a0b-b198-9ce6cdecc873 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929e8771-8422-4ebf-a352-2eb674087394 CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1659ffc-e131-437b-bd5e-60d012bf82fe CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fba8533-dd1d-4a6c-814a-4854b2c95bd0 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0dd455c8-dde2-4267-9d66-c3cf9d881492 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6055a17-121d-432c-9558-d2e6ccce93cc CAID:CA400031666 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen affbfb53-dba2-42e8-abde-6d7e25298814 CAID:CA400031666 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99020102-ce2d-4735-91f1-0957e6318ed3 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ade1adf-50fd-4a47-9520-8aee5092fc91 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86814808-03c9-483b-8952-c9e9c9f1c495 CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01770791-004c-489d-bf09-4b311f6acf4e CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea68762c-eb60-408f-8f4e-a83e2716add7 CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 869ad015-ff2e-4644-99d0-0039de04487b CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0459e8-19a7-42b4-a218-09ad57662743 CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec7c69ad-7254-4b10-95ab-ef1d629c67ff CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ea68f1-e97e-4a61-9b4a-2c3f4cd5d302 CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33fc804e-4866-421a-b10d-7cb5a15e82eb CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106c981b-e210-4259-bb78-14bdb5225092 CLINVAR:953027 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e258e26e-95d4-4e91-a856-7064f7205a46 CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398f6a4c-37cd-45f3-a9bd-24b3ebeba596 CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cd4c645-ac4f-4239-9ee1-99d03677681c CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8803f0-a7cd-4911-b64d-ed989cbcd6bb CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0d863af-9a01-4dab-9543-dfeed47c5405 CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60db4aa-6ea0-4c91-a68c-f113c1ecdff6 CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53b93926-f849-4663-85ef-7afa140c1991 CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ff4153-bad2-4f44-bfcd-677a6bef27e0 CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73dd6f5b-56d0-48ae-bb08-849fa856553c CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc100c21-6266-4104-bc48-42b5bfc45951 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca25ad5c-620b-4888-8e9c-c0790d26ee68 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367ac435-e1f6-4a03-996b-a383bb21aed6 CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2a3820d-737b-488c-bbb8-a19e34338684 CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee707fc-d41d-469e-b708-2bd63bd50de2 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82b687a4-005e-4ebe-adbf-785bff4f27b3 CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0bb8a2-bb2b-4fb8-a8da-0933019e1759 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1101c76f-c6fe-4151-957d-9ac69388435d CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800f81d9-0989-478e-8ef0-123c470bd67f CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c87d434a-14d0-40d7-9fb3-ef49b0c92b8d CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bbcfcb-6a34-4af8-a2a0-f4e5ff06301b CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a37e89c-51cb-4fd6-8544-d1e18c3ce497 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214a9dcc-fdfc-4fe2-84a6-fdd3da5d5dba CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 897223f8-3f7c-4aa0-8283-95ca636859f7 CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79428c8e-9f58-43e3-add5-2d9f476473c7 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65088fbf-95a7-4dda-bc7d-28a2633e7d22 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a01fd2-cbe6-4904-b123-92e174e16693 CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ed6935f-d950-4341-96a3-3e2da06f304b CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1d6d55-6242-457d-8a52-23c0308530a4 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3a4142f-2422-43b4-8bce-2eac035203bf CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1649b628-120c-4050-a4c7-9eb4c3b57e89 CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 939dbd49-d929-4cba-baa8-d1846e5dc068 CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265012f4-b129-4c1d-ae25-ba3a3fbc5340 CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b12cab1d-b6b8-498d-8f90-de57321059b7 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e72a7825-dd2a-4e06-a9c5-64dc5719b848 CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7b6d222-1ffd-4e8e-8d00-84fe01736b59 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d296f96f-bd8c-4096-bfca-8a5dd57b809e CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 892589a7-1033-419a-bfb9-34d1fb20fbf2 CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d16895-be47-47b0-ba82-c9506eabbb91 CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4546eb5-0b07-4745-84ef-e3a7b39f20a6 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f11a2f-02b1-4f64-8d8e-2688e983d3c8 CAID:CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc8ca9cd-f9ce-4568-b880-1253c5dadc17 CAID:CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930b0246-146b-465c-a308-5402ad8868a0 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 457ccfd7-419a-476d-84cd-6f1f14d8a9ec CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 768ee0ef-01c5-4dc1-94e3-92b50970062b CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7cd86d9-1d86-4543-88ee-d68354f0a960 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1590798-1336-4001-b63f-ad4097a65092 CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4329d3bf-feb9-42b8-be07-3517d72de751 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a3f302f-1eb7-4cc5-a817-7a5d324933b8 CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56513851-68e7-4b36-bd8b-a5498c2a2c39 CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f3f37d-1acb-4c39-8874-868e310952b5 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a0af81f-6da4-4637-b8ae-a3e32c8d839a CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e99cfd1-2483-444d-bdd7-f6afab370618 CLINVAR:953029 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3eaa334b-58c1-47cd-9dc2-3ee15eaf1e1c CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee7f63c-d10a-45cd-a446-40168ca51119 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 699c60a5-0c1c-497f-ae3f-50e1cc2795fb CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6be0ae7-f6db-46ae-ba8d-bc56c452ce92 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24eee0f7-e8fb-4d28-95fd-b22730171a6c CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571f3c11-f507-4625-8865-a5c7da9738e6 CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce6b959c-f1a1-4168-a22e-ee79c0d2f723 CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ffd6862-b28a-42b4-91c3-a75021d670a0 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 929d884a-5940-48dd-8932-280f042ecab2 CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8193f4e7-0fc5-43ae-a63e-a08a7e67fa7f CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69cab2c4-83cf-4ef6-bfb3-7883405e112b CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14186c46-b2cc-46b9-a537-712ddee56969 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf2b9811-b09e-488f-a8e9-f0c6218979eb CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4738656b-314b-4bc0-8056-87b7a5464fe2 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1cc9f55-1fa6-44e0-a93f-731f3558c56f CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c297305d-ac52-45db-9726-71a50ccf5601 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb1d1202-7406-45bd-99c2-cde40935cde2 CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97438cc3-1f72-4c47-b048-b9f1c64b429e CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77fe27c1-eb9d-4ce5-8ebc-4311de36abd6 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48eb78b1-6c33-4bca-a08e-9e7eb86ce1fc CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3bebcd54-aa74-48cf-999f-4d396523091d CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e64a65-29f9-4091-9e7f-81022a499e57 CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6b8c934-4608-4002-8481-5c4ce3203b12 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a179f39-2701-446a-be19-93558fb20f62 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 078ca03d-5feb-45b3-99d0-2e0ba8976519 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67eed5dc-c1dd-4ae8-912e-3f34bcab3b6d CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1ef419b-62e9-4dce-b528-f4aa0cc849c1 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6958a5da-0316-4c59-9b20-5dfc84bc64ea CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bb622a7-43a2-454f-8a67-64a251fe107d CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd74bf2-bae2-4e78-933d-8f0e6d0d15ec CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56450fb0-9a36-4329-9932-5d0f8cf5e79b CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c8fa77-8caa-4dcd-be69-8c54077f3fdf CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efc6f6ae-7bd9-4e50-80a6-611c9b4fb351 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c3818b-6b9b-4b66-8007-d2e5bdbcbfbf CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bfe0975-b64d-4362-9816-a3a0ac45cb9d CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99aca56-6b2f-448a-8322-5f8f9ae63e5d CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb284e79-3106-4051-a4b8-8c138b0c3848 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b4ec58-cc76-4c19-b367-2b15272e9301 CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f88cf2d-820a-472b-a0a5-0d3c9e07f231 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce39024d-1f73-4355-8954-56bd0ced77e9 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45e76da6-3871-4224-9548-1e1b31e8f30a CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ae2fff-5d6c-47e6-a017-4aadfbcb205d CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6510e6e1-2059-4239-ac09-9f8f44c51474 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40b9b56-6af5-4850-b459-44c98d8ed009 CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e797f418-712f-43d6-a261-772757820b95 CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad706ef0-c71e-421e-8f55-16159cea02eb CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c7e1ad8-aaa9-4785-96d9-88a4c14b32c7 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c66dea-1791-4327-8fc3-947e330176d1 CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed79edcc-8c25-4878-a0da-fcfdcbdd5163 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5036bfde-d68f-4993-a1c2-9a599fa0692e CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a22560a-4611-4e8a-ae13-dbc118af6e2b CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c76c14-35c7-40bd-8c4a-08d4df2b5288 CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bae4aeab-a856-4782-8c46-e97bd9ef5702 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89c3ca3-5ab6-4c91-a0d9-48acb952163f CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4ff2e6b-1aea-4c13-bb67-56df41f49761 CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8718b8fb-8d9b-4337-9b1d-81fb612a6c72 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd3352be-25a2-4beb-a331-3651fb700d07 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c4558e-1594-40f5-ae84-1a7354d08640 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecdb05cc-0bb6-4c81-9796-8a30d3d6a8bb CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106480cf-1698-4b94-ba49-e16e370e4954 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96c8fe76-84bf-47a7-a9d4-60f107172ff0 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87a3826-0305-4fba-b2ad-a63e7207e974 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b15d3fc-123c-4383-be86-8ea718efa478 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328677ca-76dd-4694-8d72-197fe825ce56 CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b90d5d2a-da13-42a0-aa88-179eca19b683 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d59357d-c3f3-467a-be16-9720ad6f92e7 CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87e3fe3b-2dd0-4f5c-9da9-97bf903f6e94 CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c529900e-9391-4eb5-b1ea-7dd7b6074d93 CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1360356f-96b0-440c-8efe-099aab2e21e6 CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1999e79-e40e-4603-a214-ac841bb62169 CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33a0f658-18f5-4d8b-a381-1f9b82584935 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be277396-9450-41dc-b709-59fa7b869a05 CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3eddbbfb-2dc8-41db-8978-072bd40ce087 CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0622733-0988-4f92-b5c2-ee09be84153c CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af621012-2eed-4995-a375-f04efc52358d CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376f8df5-fe8b-4ad6-8d65-ccea7b999314 CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b4f66f1-34b4-482a-b22b-97430b3267c9 CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bccfef-bebd-4dc6-b654-95a55b0bf3df CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f82d5115-01da-42bc-98a8-3e092b104422 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c5b328-090d-4572-b73b-146605045f24 CLINVAR:953021 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e380704-3018-4d47-a403-9e2f70b2cffc CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a662061-3082-450a-8a39-d8f8782fcb4f CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc660682-722a-4f75-b2ec-f11aced19081 CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5414dc5f-e8ad-4f90-aaa3-bde253ebb881 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16e3a8be-c8c4-4f11-8c07-68c3d666316e CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be2344c-53d6-4b62-8839-47e556b9c0aa CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c8c902d-f8f6-47ca-a129-0c3d788367d1 CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e092cc54-5109-4f9f-8bc3-89fe01832f2c CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9434a2b1-28c2-497f-8100-759a9f5fb841 CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3180e2-a49f-46ae-a204-e0b3e2c65127 CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9732f87e-5ef4-427c-a67f-6d4b2841dc19 CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160ee1e2-11a7-44ed-a5e4-ac2d0688b7d7 CAID:CA400034866 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8f9958c-9b8e-407b-9d6e-8229bc43da11 CAID:CA400034866 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554c08a8-af1c-489e-8761-64c58a024ef8 CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb75fa83-19f2-4e69-9d5d-2af2d22f6a5b CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78463e89-8ed0-46ee-9792-83100aab2ced CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfcef599-81e5-4a34-9c12-65050c9190fb CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8964363f-4c86-4710-8316-cc49b9a1ced0 CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b197502a-c5ff-4e54-b151-5f1f15d313f4 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e8074c-16e7-4922-a4fb-a4123cf43bcd CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96321e5d-229d-4581-889c-23f977ebbcda CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5b731b-8037-4e83-8b17-4f006afffb90 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ef5ee2a-57c5-4c3c-b09a-ab4bf2833e44 CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96abbe91-2ec0-43d3-bfb4-1839b50c7993 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0d2f415-7727-49ec-8b2e-54c8d5a7e508 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38426bfe-9f7d-4d2a-8d85-ad6d93bb077f CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7309985b-ab46-4e53-9eaf-8f2412728f62 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26219076-a434-4e6d-91ef-7e0353fa69f9 CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59fbf118-b19e-4e33-8c7e-8dd29a25f61d CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a78894-51e8-42cc-a45a-f2179904615d CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73ec0ea6-7c8c-41e4-b2f8-dc494c96d050 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c31bca-80cf-4082-81f7-b659841ab6b1 CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bbbc4fa-48bb-4898-b726-12d99db99c32 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483244e4-783f-4a02-9707-d6addabc0df3 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5232bb64-f03d-44a8-98b4-0b9b307a2741 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659d29c3-ff30-4892-b454-3d49e59aa06c CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5faa56d0-7259-4810-ad90-abeb85e423f1 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f479786d-60a7-43ba-85e8-498251afcd45 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34241a5f-471b-45b0-9c89-17ded073989b CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578fa231-59ff-4312-af2a-0ba97e8b349e CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5ac618c-6172-4a3d-8267-7c080b472dd7 CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb085ba7-b8a7-4fc7-831a-1e519c3445c5 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 312b44e2-bc91-4093-af94-436fcc97cd74 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db56b4c6-63e5-4e5f-b838-751fb36010f9 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2e2f51c-5876-42c6-9090-44bc8c156d4a CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a290d5b-734f-4d3f-8ee1-8b0a7f27370d CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e52df34-2d0b-4fde-b78d-937705701b73 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c146b03-373a-49c1-884b-cebd5a209c92 CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbc9cdd5-4ec9-4065-814e-501811650290 CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68fe9c1-34f8-46b0-bb5d-5b0ac9c43fb5 CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d39e77b0-8a2c-4897-b1e6-980849c91e3e CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c345be-1b40-43b4-9e47-f7dd8e7ff4b7 CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68a3f443-95ff-4bd9-be6a-3e5729a647c0 CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e19ae02-d15c-4305-918e-93d5b41adac4 CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40184320-7338-43ef-a9df-ddbb058d72a3 CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eccf493-bcbb-4895-a192-779cb435e0a2 CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2deade49-49f3-4dd2-85cf-9f01b81c789b CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f463d85-a438-4444-9cc7-577f3bd3efc5 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8812f071-b8b4-4865-8748-75969d19a944 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cbce91-3dca-4ea6-9d85-a255e1e854fe CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f786c5a3-8c07-4619-a1d9-e0344de96eba CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70301001-5678-43dd-82ac-3cf3911b756e CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b7ab091-f8cd-4ebc-820d-6946f29d8d1b CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d92bc5-b7f4-4da3-8fbd-dd7a3bddf687 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c6e8d1a-86d7-4fa6-ae32-333be0a339d5 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab56523-5368-48dc-be57-4f0bac5ddb56 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2feaec-9bfc-4c77-a148-d03e35a7fd2b CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb2e748-ce9f-4df8-92e4-2f87fdfb927b CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5adf3c23-4509-4004-93d6-dddd15c13633 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad01461-f748-4c39-8fac-3b97d7dd37f9 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4e5eb2d-4d8b-48c0-864d-cb2690ad59b4 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918f5aaa-ace4-40b4-8e36-d461ce8eaf78 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b99fe342-7970-4b06-b112-3bc7ea3551e4 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff14caef-f5e9-4a7f-8ca7-b276035468e7 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02fe3fb8-4a22-4ce3-9886-1c08adbfe219 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc626f4-2b55-45e0-b4c0-0ffa3fccbda6 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53ff30c2-4cf7-4302-a773-dc7d51c8dec8 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089caa00-4465-4f55-81cd-4838179764b7 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0d450a5-1425-43d7-a879-ccfc1efea82f CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf9fceb-eddd-45c8-9036-4b817a534202 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ebb4e37-e624-4d00-b512-d034b5c86a04 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8e4295-6e26-4ff9-a5f6-d2de32d8e436 CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb0da4ad-396c-49e8-8d3a-e4379b59afaa CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cd4e1d-f76f-46c9-b6f3-36921cc781d0 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6526413c-444d-4673-9093-996bd561f2d3 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c1c4e1-b665-497c-bf57-9c6b7d50181a CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8bee88c0-df5c-4840-bf7a-392e3e0a39f8 CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5b74b2-7c58-4d92-b1b5-14fa886ecc21 CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbdb1bda-aeab-48e4-aeac-6113484f7715 CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6df010b-0841-44ec-9e40-f19cbeb76c2b CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aae39f8-fdb2-45ac-bd2e-664aa6ed1153 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b87f6a9-ee19-4ef6-a839-f26e0983b96d CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2ec76c4-50ed-41d8-bf10-1a6bd5934c52 CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516f082d-ba6d-4e20-bd28-5fa328f6fcc1 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c36b58e-8369-4df0-8f72-5c219fe026c1 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b19913-bf54-4e4e-9443-9a23ee05893c CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f6f4052-9881-4534-979a-b113436c1fb0 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb54af69-fbd8-4471-9a0e-0522f99a586e CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b35284e-e8d4-49a6-ba63-80f93a88983e CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1180b46-a448-447d-be4f-5104d10f4a7f CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfdb09f9-5e46-4797-8a0f-627a33fd65df CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6b5133-fde7-4e00-a8b9-0807d2d98c3c CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 818c71fd-048b-4205-a6f6-0235c8c11953 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307d1f2c-1019-45ad-bb69-cc8fa028dff2 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b75f2212-69cd-4ea5-b2df-2b897b325ec1 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed337b94-342e-4bfc-8f42-ca75d7e0b1fe CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f137e50e-4e5e-4f90-991f-613327fe73bf CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a0538d-184b-4787-9e0c-862211e461d4 CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 281a049e-dd07-4bb2-9da0-360f899007fe CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6aba7e-2516-4f8c-92cc-234cfa4db074 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b7c60eb-dd00-4b75-a96c-900917ca62d6 CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed85d5e6-74bb-4d94-9df7-bc35acd634a6 CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8d9c81-a7e1-4448-aed2-641e0db6d41a CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9c5c21-f70a-4510-b69c-7d89223f3c44 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c51d9d5-f053-4260-acfe-440eae77be8e CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c3fcff-3e89-4ea4-8a31-4414480e4b2b CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc531f8c-a376-48df-8b3d-039dcec0465c CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885d5ef4-f89d-42c2-8f42-c3bcd37c3d3b CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88c7726e-cd62-4903-a252-3c7aef1be5f5 CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6284b09f-c66c-4b0e-a302-786207e9bb96 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57522cc3-962c-4779-a9b6-583f686de7d5 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e83cae-07ba-47bb-aecd-feb6e22877dd CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cef0f37a-8576-4d19-b9cb-62e78c6d5ddc CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2000cd-fe3a-4e46-bc24-c0afb395bfbe CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39269a20-d495-4300-a881-f4d42a545991 CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc31d68-0023-4957-8d81-4d0945907646 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f3ee56a-fd07-41a1-92e9-e0da946498dc CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8107641-2b14-40ff-a25e-b0e6e975674d CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d39690-f378-4351-8aa1-5419ad990554 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbff2e0-eb5b-47c3-964a-edcbd8794c00 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2a86fb7-d11f-4f99-a173-52f300b8e754 CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356053a1-df3a-471a-b77e-0c14cf364a0d CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10547174-655f-41de-9f34-47d5b6816ead CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82352d2d-6bb7-4b68-b027-1fca996ca27e CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d96aeb30-7fad-4483-8e08-1995ef652a81 CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca97153-1403-4331-9118-bd6370e0bd70 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 382dc723-69cb-470a-bec3-0b72648d8707 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5880b0c2-a8b7-418c-a817-bf92905f6521 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92ddd4de-129a-46e7-8008-f150a30068a4 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ba65a2-bd18-4808-97d0-c2309a16dd52 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dd3333e-4344-4a8e-a74e-79505f687568 CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d93cca-e482-41c5-b7f7-7bdf8e0d483e CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd817836-adc7-4f99-92dd-354780a1fa09 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ef1d78-6a2e-4742-bab4-ef0d8ff57f46 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ebc14da-5312-4cf2-bd07-17f0b3a77330 CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209462b3-7371-41c9-a7db-8e0caf97083c CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6ad9552-9352-4b94-b9dc-19e9d5ae4b98 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e12e6fc-5315-4dc2-9c8d-ea18cb1f7c14 CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc175ff6-4cea-4b96-8d41-89f999823197 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2615ad4-d092-45eb-b6e3-f43be5d9e202 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1eb879c-41c9-43dd-a760-155caea85a96 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80644f6-4216-4773-863d-d605a6dc25bc CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2be18ce7-3d68-40c0-bf5b-ee85f2bf76e2 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb204ab2-c2ec-4855-85da-9e03bc3747a9 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fab9561a-db4b-4087-b21d-105ff5db1d6b CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe51ccb-c9f9-45fb-840c-fcec049517ad CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1034e180-1f24-47a2-95ae-914641e86f09 CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25435dca-4441-42a1-a252-1103caf38fb3 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea262c32-d1ee-4dff-be38-16b2009a86ee CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70a491e-e4ea-4322-8890-c919392750ce CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3617ee3d-ae53-470a-abdf-ade10f6e9380 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831522d5-606e-4faf-b7cf-bba7aebcdcbb CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25fac34f-6b5c-4318-8a5f-459c3cfab088 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab81da1-14b3-4322-959b-c281b24ae4c1 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60e8cb0d-3639-418d-ba0a-f4f7ffe82bac CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f598d06-804f-4991-9f43-1fc395312087 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c19a60f-84e3-43af-a4e3-768f591b12a6 CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9382d69-5890-41db-9cc4-0731c2f19b20 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c43fd610-bcc4-47f9-b069-2868c3ee0755 CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ab7452-bb85-4cca-8516-f7f49388c2d1 CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f22388eb-4844-41e6-99e6-c40430b9f550 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddfd2dd-e5c8-4c9a-a04a-5ccbbc1e4d26 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76f0f045-b0a1-4093-8fa6-8404ea10ccd6 CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c552661-ab24-4f83-a9e7-c3f281a7c72a CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d5ac2eb-b735-4572-a931-5cca88c65ab1 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808b3b15-31c6-46af-bee3-b7e75c7ac1bf CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ba6e089-687c-4596-af19-36378ec22596 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b4af0c-2bda-4fec-8500-aa391e2dc52f CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae90dc02-4bbc-4518-820d-9af8b400be37 CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3321e5c-0861-43cc-a0ed-0fab2348ca5b CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0710cec9-41f4-4bfe-8abe-265d1622d233 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d0a46c-6ecb-4746-a897-06435a101f37 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8a2e685-8f18-461a-9ee4-b5c8874f65a6 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f910a7e4-3009-4e5c-8861-2abd45d6f78c CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96539cdc-b415-4088-95fc-eef5fe23e0d8 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463c3e00-5a7c-44a8-a575-a4cbcfda128f CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9e95fac-25e4-4feb-ac9d-c4bcd6058237 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54237a71-05a3-4731-99e6-05e44dd722f4 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9cbfe5a-16c7-4d80-bcd6-5385ac4088ec CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c56c317-15d8-4313-af93-66dcafe03ed6 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56234b7e-866b-483f-8cb5-de1a9418ed92 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 634397bf-b5d1-4125-9075-6066459c2939 CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de84f73c-3fcd-402d-8599-7b78ec0d1118 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d1394b-9148-4fd2-b359-3dd76c937b93 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c790f24-d979-4566-b175-e69533ff57be CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f83221-1125-46be-848a-0bf6012978fd CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b85f07c3-6cd1-4ffd-92af-f8a94d323957 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59749232-c052-42a5-90e9-e999ed4af7bd CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5cb3ca5-6c6d-42e7-acda-235850d18b91 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f35d2e0-c3b6-4eda-883c-523df5e90e9c CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9ff5da4-9b12-4451-935c-bbfa9c6eefd4 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff51bec-bcaf-466d-b328-967d3e32da78 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82c60bb0-13dd-475e-b092-5554c81fc5ba CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459bf229-0897-4598-b330-70788099d4c7 CLINVAR:1214000 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f62923-e1fe-457e-a385-6e1099b283f3 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122d5e11-e091-4164-9a92-6fd225fe18b1 CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 038fae03-4d9a-4ecd-b51b-4e42a2197373 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5a992c-0987-4518-9393-0f0814b8909c CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8749838-5656-4577-bcdf-810c3592495a CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c29698-6e29-441c-86c7-54ff69d452af CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a0400b9-2348-4a6a-bf8c-63a6aa513a3e CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0c8154-dc06-4ade-b36f-36821c3e5c88 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4304d66f-080e-4074-87ac-f67dbf22a5d3 CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b05e27-2ce4-42e7-b22a-55b350cbaaeb CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e48e4c50-3a0d-4330-8a34-5dff05a4b7a3 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c756d41c-99b8-4bbb-bfc4-cddf485df258 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca6ad05f-3eea-4251-92a8-0d8d3e8b4746 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344850b8-08c7-4f21-b006-8f296c1a582c CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ffc596e-8409-4fb4-8398-72d6ec5571bc CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b01928-8de4-43c3-96a3-214f18673614 CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7b9cee7-2c6f-4fec-91d0-0cd05047d31b CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f5a1d6-3636-4fe1-8804-6d8bef3963b6 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d31c395-8c13-456d-9e15-f0148c32cfe5 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a84c56a-74bb-440e-bec8-733ddbda5f75 CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ec19aec-fa5b-4eb0-9054-071a0e84a30f CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8d2ac0-11a2-45e4-beb9-de6b8aed4dfb CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90daa3ee-7821-45fa-970f-f9ec9762064d CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7399011-85b9-4483-b673-faf2191bca4e CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81d3e3e2-2973-434c-99c5-df0e44cad983 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0791cc-2624-402f-b3ec-97c93ae96d57 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1447587-ad0b-4e8a-8aa9-9180347c5d1f CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7b10f6-9bc5-4def-84e8-10442da9bcf7 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d875e4a-d99f-4d60-be78-0f49ee7b50b0 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b4e010-4cf6-4a45-86d3-60af74d7e06d CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3845a76a-1da2-451c-b17c-bad219f19827 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3e60a0-3ed8-4d0b-a848-b66b2a151fd2 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 286b0fe8-32ae-4f67-adb5-16aad62f46e6 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b6836c-6e30-43c8-9313-88735330e99b CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 620f9687-b029-42e8-ad79-fe4b29ec15f2 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f12980a-93a0-475c-8070-89f41887c3f3 CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 037f52d7-8aff-4d29-98f0-d83ce76fb75c CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9339b7f7-e399-48b3-8de4-6683a60688d7 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04b8140e-1095-45d0-899a-29cce144dc30 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d0da06-9377-4a5d-a8f6-1801a452bced CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0e09e28-174b-4d1b-896e-9445ba744c6f CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ccfcef-df5a-4c05-9c7f-4b9ec78fed55 CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f430b1f-57f1-4565-9fda-51706e181020 CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e084faac-cb9f-4b38-a5c5-01f544e1003e CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11a4fb52-00c8-4afc-8fb5-6c7ed915452c CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b26f05a-a376-498e-a131-dbfcf71e6f45 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0735623-afb4-46e6-9b77-0696f387bc5f CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2124bf6b-8011-4ddb-8bc8-afc1bead7c56 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 122fcc49-0fd3-48b7-b380-59763f71d34a CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77014a4c-3a22-4e61-9f40-6d2560c3985e CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60b80109-365f-44c5-a298-eed8208eefff CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09eb13e3-fe5e-4a57-9bf0-bf97efe6dbe3 CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1e78a35-70f8-4c98-bc35-59328a427a30 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405f2537-9dca-477a-8dd4-6e67376c2c67 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e360e5e-557e-4230-8fca-614c3234f403 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae83ee8e-964a-4d55-af26-9f42cb5deedb CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cff7e20-313c-4ac6-b7c2-794607a20c6a CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4dbcb7-3c9b-4d4f-9eee-d86b292fb21b CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0eeda75-4147-437e-bd42-6ef9e0083d5b CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb13c74-85ca-4372-bbd8-20539e766291 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2d7b4c9-5600-424b-bc07-fb3da77ae1b8 CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36084948-4937-421d-a76d-5f10eea4a0ef CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 335e37ff-d028-41b7-aee3-ce03f54b404c CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca60f43-6a43-42df-a1ad-995702c1f388 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f43e793-983c-48b8-a46b-7e2cf26c758e CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46750e0b-b440-4b8b-808a-966ab97b51fa CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93eeb6c8-b98f-4ac9-ab4a-2deb731be732 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bc4dc1-d533-4af8-889a-4d609d7e684c CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c155e84-c0f6-4f1d-906b-f4fe84f287f3 CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e830995e-77ee-4bd6-ac2d-199bcd287963 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2225126-97cf-4019-b435-b13a7e9fb7c3 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0dc55ae-d1d4-49c9-9494-e6d115b621ea CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25a5dc8e-2c16-46d8-b02b-775d8feff0d5 CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd4e224-0a5f-42b9-bd05-0fb61e561501 CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f7d0c4d-8def-4c77-9337-696fc3ab4f1c CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f876a11-e9f2-4460-8148-f28eb748acd0 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87791b63-080e-42ef-bc2e-077e9db687cd CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e82165f-dc47-4121-89f0-e35e1d782f75 CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a8bc0e3-06f6-4b08-8197-df7e32acea10 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a39bb37-7bb0-46b4-bc92-ae6fae9a065f CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f50d377-0285-4a75-8836-eeebc963e20a CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b43f42a-151a-4594-a583-650699479f49 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22365e88-28aa-4164-bf11-f099e4b3d0c7 CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36274ca-479b-4ae4-a26c-9384c1cdc9ec CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75ae5869-ea2e-4314-9d8c-9333ca5e1e69 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9715241d-6a18-44e2-b090-8b3740e4a036 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90653922-f79a-4099-99f6-d4b22fa7f1c1 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738762f6-feb4-42cc-a677-d286e2098544 CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8110608f-01a1-47a8-9dd3-2ad5a7ca4e48 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf7bfff-9b79-4cd0-8ab3-ff263b4add25 CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1588e18f-ff91-4d27-b0ef-7462984c2025 CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e0d6e7-d056-401d-8861-132bf3ba4ea1 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 960d3819-0172-4470-b2fd-1f6a191d0160 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9e12df-27fb-40d1-9434-b2eb380ba04a CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a51c5031-5710-4bcb-90ef-7ab75c620f2c CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b91aa78-4175-4bb4-bbdd-c0240629ceee CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aad583a3-d60c-4747-b910-996f5e25bca9 CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8974d0e5-5fd9-451a-a16e-f77a686f736a CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 779bdb4e-6110-49e1-8e7b-d320b5d02265 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8a0540-0263-43eb-a1b1-bb39e1a9dc70 CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0348cdf4-bf76-4bb4-87d8-caad02b1dc2e CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7c30cd-f65b-4003-91fa-94ef5360ce8f CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f43f205f-659a-4a9a-a6df-0839a7f5a928 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3374abde-ffd8-47fa-84a6-89d05ac6bb8d CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a8d741d-ddec-4373-8943-42fab030b097 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a42ca7-becc-4cff-b8b0-a2c7a4596a2d CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ac6676e-e872-4a0b-915e-d6b00b13ba8f CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acaf2132-6d0b-4ada-ad36-fe483d1a7bce CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c54162c-22a6-48de-b911-ea6c354eb0f3 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11424e3d-9e6b-487e-8803-e7912c1287be CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68cd44f7-3f75-4a14-b96e-cc3a16374f76 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54174c14-07a7-4a96-83bb-3d9aac8f82d9 CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82941532-0138-42a5-af22-baae186471aa CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28ef910-1f19-4f51-ae0e-1c752c30287e CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ea09f64-2320-451b-b2a6-c11051dc592d CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f971bbd-7e1a-440c-a4d4-7d1a4848da45 CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50ac305e-3463-443f-b579-ca43b8511f66 CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f365b0-a563-48da-a9d7-5b7dfd536e62 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c44dc1b8-1bff-4b91-8d27-bff6376a799a CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0404bd1e-e424-4fc8-bfe4-fc934ad00f5b CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcf5456c-000f-489e-bfe8-9c6d58de4913 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6615e80-df5b-41d0-a9c3-33d8e13ffa03 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 066f1b7a-b0ae-4dda-8863-c08221881016 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5188b37-d704-45d4-9861-a7a30135cd67 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d6b9e12-a070-4e61-b918-f6d99054fe49 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80411e9-a49d-4fca-ba8f-dd59e9714696 CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90cd2037-9ab1-492d-a043-06bef4521007 CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64664bcb-5c37-45b6-971d-6dc3d169dcb3 CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfc2b00f-0e01-4199-82b7-9c30f56eb3cf CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e219ce09-c3e2-4497-91d5-e05c26102a86 CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff700a1f-d058-458f-9d5a-f7191141f6f9 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be15c0a5-629a-48ff-a9ba-11fbb6baff43 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22956bb5-24bc-41d1-9800-7826dc03eecd CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e41f197-d94c-45ed-a565-64e883b30b37 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6558c5e8-46e0-40f8-b9b1-b240abd3fcf3 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c3cfce-681c-44cd-9f38-932aeca64b87 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2769db43-8d54-46c6-99a6-cd6d21aedd49 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee7296d-396b-4dbe-9cac-71c0c3693e06 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aed80570-e9e1-490f-bab0-7bbfecc7aad8 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdc89ae-0e09-4fc0-b5e7-11706ec2d40c CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 441c1466-709e-4f05-90fc-5e8cab07f520 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb98fe96-1e10-4a2f-abc7-c89bdcda43d6 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 543029e2-6d2a-4465-a863-019301c58179 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a656a000-349b-428c-aa69-de553e5bb8ed CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fcfe1f3-2f52-47e8-b8cc-fe30007fa9bf CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e339c6-51fc-43f9-9688-b3f0666bf4d9 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c14fe062-6eb7-401d-b280-b2cb5e9b9ed4 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5862779-592a-420e-b3f5-c08a988a4782 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7816bf5-833d-4548-ba58-977581d25162 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d795f57a-fcb1-437e-b3b5-92f4d9579c5f CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9c22b6d-fe01-4b13-b842-6bcc93356b14 CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e866b2d-3140-4075-ac3c-6edbcde70327 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f13dfd4-448c-4a83-81f0-dee1a31ed327 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3667b7-c4fb-47c9-be31-df90580a39a0 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e12d2143-8f74-4f6a-ada4-8492a0088f8e CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1142b46a-d850-40d4-811b-691ecb0058e6 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57a0c822-c372-4592-9f9a-31a0dcdc70b5 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7fdf20-5ee3-4971-9c34-e31aa0ebbd56 CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e40fac1-11bc-4ae1-8e95-7d2188ff44a3 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a03b96b-c2c3-4aff-b77e-74fcddcb4d5f CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 755de1aa-91bd-4a0c-ae05-7d71142c0cad CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e3b24a-c822-45b2-aef1-a063b760db77 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e04d8cea-5c29-4dcf-a2c6-a3d1e39189b3 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b747492-d4e9-4a4e-b735-3eb890f898c9 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2aaf770e-7a85-469c-b19f-def06aab9d05 CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a192278-7df8-4ec0-9c0d-81022abb4969 CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cb0aa82-d5ee-4303-9e2b-0380a5e4b6da CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a6719f-7d43-4a5f-a842-5910b683f607 CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab52cd48-34dd-441c-9a6c-93d16aaa855b CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b59f0af-4019-48fa-b4b7-2a5df2c6dac2 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17d8fd9b-5f10-4206-85d5-b9b80a38cae9 CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90593073-634e-4599-99ac-79dcf14e4e31 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a43a5a0-79c4-40fe-91d8-6a1f7da262fb CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3306ad59-39fe-4373-8707-c38ef75c5a86 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eab5197-b4dc-414a-8aef-9d23bf308a91 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65654c64-c4c2-4b2b-adce-de3e33573020 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff2fcb82-44b0-4b43-aa9f-54f48afd8868 CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e7a033-d987-44fd-9e68-b6c95cc0bfb2 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25c142b4-471f-403e-9a73-e5143463be2a CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd0f70c-db09-4025-83cd-862667519f71 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 475c2e0a-ab73-42ea-8bf5-c53cf7d837a5 CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91184912-0208-4fd0-ba07-2395d414a733 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf3e9eea-2296-4dd3-b594-cec4b1c6418b CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d39ad19-f8c1-4c4e-affa-2225c7c2dc32 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d576c63-150e-4726-9072-139d99faa5b3 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d53c7e-027b-4ccc-84cc-8592a3f6c021 CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d49eb440-b878-4cf3-adc0-7cdee8114075 CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b851a58-97cc-4f7d-add5-462796b3430f CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 296435aa-9ae6-4cfd-97df-fbafc4d1fa5c CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f800b27d-5172-4399-9b2c-9c128e3b48b0 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e25431c1-38c8-4ad8-ae57-4dc5cc42ea7f CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f859b62-97c7-461f-b9f7-ab6b6b8f3d9d CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d39a9ae2-c575-4d29-9faf-a305e66a441c CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f2f69b0-15ee-4ab9-8ba5-d7b5bda0791a CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c34ae12-5ec9-4ba9-81c9-4cdba2c312b3 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a7ac33-1c62-4bc3-a521-0b9f486190dc CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de37c75c-3b7e-4bf3-bf74-9eb4c6f63e57 CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7f1113-e819-46b8-b1b0-abaccfd36406 CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64304d3c-92cb-463a-a240-860d55bf013b CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b515a6c1-37db-4ae8-ac38-f1bc9e058e0e CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98dc35ef-f424-4ec1-a589-2bc56696220a CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bcfad48-2e35-4e75-ac3f-259721a8cf3b CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d66cd2f-63f0-44d1-9732-bfc700d3d70c CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580abb77-ab06-4f52-9faa-ad270a6eaf30 CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3e764ca-ea9e-4a91-af54-ecd696e3b360 CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cedf3d-efdb-4463-8c9c-e09c62808791 CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f906cc00-1131-479c-9900-e2489c045a9b CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb8ebd-8da5-43c9-8c55-f8c7c1ea0531 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7fb1946-2fcd-4427-b5bb-36f9541ba28b CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccac36fb-da40-4a7b-89b8-d4d7756fc793 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01c60dc1-37d2-4e61-8c91-84403803cd29 CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9751137c-09b2-4d65-bb59-f9d0794c2484 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4a5d0fa-3e27-459a-9f0f-541fa5186387 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38241208-99c0-43c7-9b24-175cd57f8385 CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89913121-dd0c-4918-a52a-2d6b98d4bee6 CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb916cfa-033f-40b7-aed0-c09f55ffb3f5 CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a3f59b6-6d56-4a93-a449-3a6413151d27 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da240d1-1de2-4d21-a966-778e5294d5bf CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa81106e-df20-4226-a32b-73d48a3677e6 CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f16864b-9e7c-490d-8e8c-9b10f5284d01 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14c4eb49-7321-4bca-9185-17e34cffb032 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a6134e-e024-4829-84b2-94b37d311436 CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3e8ae4e-621b-4d81-9367-467aecf27de8 CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e0958f-9728-4cbf-8f89-c2a85483300f CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b97c9079-5a8a-45ee-ae9f-5508a9236de1 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6039c6d-3b3e-4e1d-aea6-9d4383005565 CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6512e0a4-07bc-4d7b-a7cf-5510afb6ae13 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3191f462-25f0-464c-9243-212beb17df83 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e036a0-795a-4cf4-a83e-60f4288c02dd CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99ce82f-fbba-4365-9010-0d132b4db932 CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb811e90-478b-4c15-b000-0cc61a89d2ab CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830578a8-85c8-4c43-83e2-1327a9fa4d41 CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb00e828-0ae9-401e-9de2-9df564df5df9 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01466f3c-f963-4783-a051-9188d9dfee3d CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3e5d4c1-f687-4c5d-b15a-06919c26235f CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dd348d-c346-434c-9d42-954235e64fed CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 142da0bd-5f76-4859-8148-345c530ac7a3 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035891e2-5a05-422f-8604-0d520c39a717 CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c624a15d-9cbb-458b-8efc-698f5afb256d CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7037f65-7772-4103-84a0-f375d0d45779 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d48e049-6b4f-409f-8202-7d7cf6adbe8c CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c030c38e-9c6a-4f17-8b1d-f88b0824b895 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5d9191a-408b-4d2b-ba14-c1ed31fea8a5 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2328e6-b78d-4861-b945-84883c6d13ad CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1446cd3a-6f5d-42e3-bab8-70598ab56ab8 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defc0b6f-72a4-483a-bff4-6f7467aeaa54 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea4f7bf6-b9ec-4adf-ade1-265c7a65b8f9 CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ea1671-03b8-4d6c-b8b2-6a608a06c87b CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f051574a-e501-4aa9-a4b7-9612974129a2 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6607d0-0490-45c4-a125-415311ae568f CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f41fb8a-1ba7-487d-a6e5-d3da471ef8a2 CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72b1129-dce4-4d13-8086-726307a94f4b CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a74a6ca7-2412-4cda-8d36-5b681a20360e CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2338161f-b7f1-4a42-8d40-66582ad58c8f CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4561cbd1-306f-4060-acc8-2e9dd094be30 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad3e3b0-71c7-427b-bcc0-b3e649fc041f CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 634674e9-cfe2-47cf-b7f3-3b1864a88598 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf16c84f-2b4c-4966-9b8c-8cb2f6f045ee CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2a68b3-e6c6-4e60-8fac-6eecc796b15d CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34082304-a43a-4cf1-9957-6ce5d38e7cce CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b882f772-c961-4620-9940-74521ef85302 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809ab354-e34e-404b-b19c-c85e76681245 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7a98fb8-6289-41ca-993f-89f311cb1c59 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48de0cad-d71b-4161-ac74-e5639268eecc CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11aa3801-b52e-4ef3-9490-f2a0aec9f1e5 CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2759d420-ae01-486b-84ec-45380fd645f3 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22ac0fe1-e313-4079-a38d-387b83d64f5a CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c27668-7ad8-4b74-9e64-9496ac10ae0c CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91689ecb-af7e-4e1f-8e00-82f3d0f65b1d CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497db2e8-e2c3-4817-9a3e-a2edc7440084 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a722f2f5-8a58-4d9b-9a90-dc2654428b2a CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca3d219-f23b-4062-8113-c6070460ee4f CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8687e6bb-07d3-40e0-bf9e-768c195ebd94 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8063b2e2-b269-4a52-babb-226173a28619 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13cdd4d4-6d1d-44a7-ad2a-71c8e9da78db CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23be16d6-cb5a-4094-91c1-fdc40c5195b2 CLINVAR:432062 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen afe902df-a64a-44b5-be55-fa7f92f6bfbd CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c774d421-84e3-4f0d-8ee1-8d395c82d020 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e36e086e-df82-42dd-9f09-c58e04b2fac5 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4b7fe8-9e95-4a1b-b3c1-a8629daa4ae4 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d89f8fd-f890-421c-9ba2-3f2c12d5525c CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2131cb9f-fae9-4a42-a382-5a5e2c434e17 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 115d1451-51bc-4854-bd41-4b8b2b95d7b5 CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6157acb7-8078-4ff8-87b7-4d97d887cf08 CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ce67c71-59de-4b71-9fc3-6967404c60df CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ad13bd-59af-4aa3-b768-00bdca29feeb CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62d0772c-13d2-4ddc-8190-abc2635e5472 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265b70bc-e240-4658-b7a0-3d83e8926916 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c771b65c-1f1e-4c2a-a2c5-bf32522bda27 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1306bf85-61b0-4495-9d5c-39d61b00944d CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef237118-32d0-404f-bca9-6f6279903d05 CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0038589c-5c46-4670-9de8-e0eab30d643a CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d65caad-d2d2-4ad6-b4b0-4d0f3edd8310 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7f212f-d91c-497b-9e0a-3a26abc413e9 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8c21e32-b425-4965-ac80-7723b5ece9eb CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 201ff485-06c8-4a64-9346-acd7428c1bd2 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79b68b87-f79d-4928-a257-d23d371581d7 CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78839c78-1941-4fba-b561-c3f8e162f42b CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46185525-666f-4004-ac19-0d69f8919d66 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5ba058-f90b-4534-85cf-07cff9219646 CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68bd9c66-de82-47c8-94b6-f54edde14ea2 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04d9f10-4199-46a4-b06e-36c649d66c8b CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c494f02-e3b5-416f-b675-2dfba91cbf6e CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6515d28b-3e04-42e1-86b9-d5151a300ea4 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61c487b1-033e-4a7a-a60e-3a346a110054 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d529d8-1cf9-460d-835b-751bd0bc52fe CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c86b633-1403-4fb4-a97e-638b0f601d2a CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a3ed67-a1aa-43b5-b89e-181fb0480415 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cab0c4e2-9b8a-4e54-83a3-81236cdf8df2 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4307c64d-8279-4680-9db2-2ccfc934536e CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d15b588c-f0ad-405b-ae1c-89441a24841a CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2011e78f-9c88-43f3-a6bb-da718495ac30 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 081010e6-6b12-4cd7-84cd-d7b46cd20057 CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4349c7-b3ea-4ad7-8804-6ebf0720652e CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94efc494-ae2c-4732-87d9-8c221fe28bce CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c9f285-65ac-4731-9e9d-ac254de05cae CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4aeccf6-b7db-4cc9-80ff-bc0b816f4051 CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f074cfcf-3ef2-4ff1-98a1-21b98451bcbc CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0baeb065-af85-48a9-ae2e-877458274172 CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87d06e9-c23c-4d49-bac4-44bc13fe2c2f CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed903752-9200-4ef1-be02-941334c40326 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c64901c-a8ba-4674-bc67-2234a266199f CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3ef614f-3943-47d0-bae7-e0361466095e CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc357c0-87fa-4ef7-985e-974f694cc0c9 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8a97045-ed7f-4b09-a525-a96b30a1cb6d CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d302ac-89bc-4e03-96d0-6d6198d2156b CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 682162a9-7ee3-46a4-a492-2a1bb6f5bac9 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c7ac625-5b1a-4761-8101-a5ab2f3ee5ad CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9619a40-8998-4d79-a9c2-893399823e11 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2beb82a0-6fd4-478e-857d-a1931205e1eb CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ced636c-9c30-447f-83de-d67ea033b959 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e11b106c-f125-4e4c-b743-1716086ca952 CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9effcd68-cd81-40f0-a8a9-6ab07b7fa793 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fe1f35-a78a-4415-b26d-c3dfb229660f CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec30e09e-6e45-4a1c-9fbd-9344d4addffc CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ef3f79-6aac-4ed7-92f5-0fa70ff9612e CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f471e16e-ba2b-4a12-aabf-165c2d6a9b2a CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be73bbd-0719-4dde-b77e-e9862cbbbb10 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db62ba2b-6725-44b3-ad24-f273f4ebd46f CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db99715-4606-41ec-a3a7-5cf92467c59d CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f734cac-25d3-4e7d-b850-08efa1e30e39 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f710b005-fc20-409e-85dc-6b52f8d55bdf CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58cef10b-302a-42c0-abed-542dc372da39 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd35bc0-b681-460e-9ea8-6fdc411296a5 CLINVAR:133040 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfc6dab2-e0ac-467f-8e76-ade3687f0ee5 CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94020990-4832-4509-b947-c43e18f1a194 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d5ccd0c-6ea9-4e21-baa8-130379c67ebe CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2188d0-f669-44b3-810e-ddc61cf8b91d CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 331e0ad5-350e-4b46-8248-eb1244ecde3d CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23311439-4b4b-4ac9-af28-4f5aec9d963d CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fb15577-b644-440a-81a6-84ef6208f182 CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e8670e-f4d7-4a27-8b2e-543eb027b36c CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6db53c55-b779-4127-b336-ebe585afec8d CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ff849b-d4fc-42e7-b3ca-208ee5e751c1 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76096c5d-21dc-4c20-95d5-cb23bc74b53c CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8960f89-73d2-42db-928e-0fa82f77f4ba CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 967e5e9d-6b85-4c04-a5e3-25649b9057dc CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b568b8d-a8e5-4798-bbe7-1330b4e34611 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1593bb70-be3a-43b7-82a7-032edd1a0e9d CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94fb50f2-03e8-471b-80ac-281e184b9e32 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b935cf6-34a9-4df4-b95b-0c8d08b25f2f CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f263bf-95df-4109-8c24-cf0c8e9b9040 CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32463b11-f508-4620-9c93-cc1b77afe02e CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27544f04-5a0d-4993-a1a7-d60f4f832001 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2d297fe-39af-47dc-bf3b-6f232744769d CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eeb624a-1595-4fc3-ae0a-f19935015eb3 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7379e9b6-affa-40e7-ab8e-e348bc815c11 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c116f925-3bb2-42f9-bafa-1fd603c03181 CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d856828-641c-4d4d-af98-4cc3b95869c2 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65824a6e-217b-40f8-bada-7602bdfbcb67 CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9872147a-7368-472c-9481-85879a0110c1 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ced038-e5bc-467d-a4e4-abcaf5617c98 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d014063d-fb1b-4cc2-b466-05a467f059a9 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee71d36-88c9-4e26-822b-38fc22d3a386 CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35915a48-bd1f-42d0-86ce-7298a537d8a5 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9e5c69-4054-4808-b62c-47c82692ab22 CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f003d3cb-c02a-4caf-88af-257d10340fa6 CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709a0709-3303-4138-9dd0-0e0213f7a0cf CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b709bf03-6bb3-4960-93ac-3b88994dd47a CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 853c7ce4-ca2c-4aa3-8afe-4423d5551421 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc46df3f-0b2e-4404-a295-5b6672cdf5c8 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397c76ee-176a-4bb2-89f6-4fa9efe301d8 CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2268532c-eeef-4c2c-b78d-5546a4a59181 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9656eece-b5fd-410e-a5ba-9750a8d50217 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66e4ac03-86b3-46da-8dd8-28ff712dddeb CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3387d860-998c-493f-826c-4e59b8bc7e0c CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9db70c4-db83-4a18-80c2-fbc44f118bbe CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4f81da-d423-4efd-8099-9a04087dfcfd CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ad9e97a-f7f6-4d08-a644-f9c81011c891 CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5f0a07-2598-43e9-bca2-fc4a14174592 CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c0f7306-139d-464e-bd14-a7f78460df4b CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d314390e-940c-4516-a564-483412bd23c5 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 772cfdfd-b616-4e2d-abff-201554a57b03 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5ac6d6-2b91-4aa0-8094-06e3feeb7249 CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7a3b5db-184d-4a2e-b754-d10bb4351f4e CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a50cb61-4fb5-497c-baa5-6f54a5c127f8 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1dd8586b-e166-49c0-a0e0-7d91aa5485ff CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb745c62-53c1-4fa1-aa26-e5ebf4f16b4d CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c33cb0ed-e573-4c8b-b130-72efea8361f3 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2dc138-ed8c-467a-9136-645e16eab63b CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 699b5645-dca7-4e17-ad54-a1a2d140c1ba CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f0b55a-2ae6-49e2-893e-96ffb01ac4e1 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b643bad-4e08-400f-89dd-7220369ab6bc CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6682701-6e30-4251-ae7b-d73a168dcaa2 CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46f5798f-8399-4afc-a007-5867a15e1e8a CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70418e6-860e-48e1-95c4-5dc9b066f8af CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 234ecff4-f171-44d7-b0f7-8c0e1a56636e CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e5267b-967e-43f9-ac04-a752471cf8a6 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70437145-77b0-426e-acde-2cc514d28f13 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6907096-6897-49be-a628-9c8e1d97b9dd CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59861aeb-15b3-4645-930f-82ff8477fa30 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b045bc27-da29-40fa-a39d-bcbd2cba76c3 CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8af27e08-bf7a-4ed9-a554-97f60470cdd3 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1356fda8-c45b-4f6c-86bc-a823a68ac792 CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef474130-ca13-4bec-9f92-a5cd73f37c3d CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248dbd07-3b62-45fc-925a-06db69cfa2c8 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e216108-9e8a-4db1-98d0-1378c56c8a3d CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c71c76f-4ff5-4085-8468-3e4af5e358cb CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cea19e5d-4547-4cb4-a062-999e5d4d9914 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b4bd4f-9752-4c16-8b9e-68fa8c7870da CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 841f28a6-0228-4413-9676-c1c7fe9acb74 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62577dc6-416b-4a3d-9af0-ade51787f333 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 388096a2-5a95-40ee-924a-01920c6180f4 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9137763-b8fe-496c-b0c5-dcb6928659a4 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de357408-264b-441e-af55-cbe97632806c CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312a513c-6954-41ea-8147-1ee15addc71a CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61132b04-a433-4bd8-b1d9-1a6c206a939f CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af509551-44c4-4a38-9b26-2d0c68e78e7c CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80e90473-553f-4abc-91c4-596a4ae314e6 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc296c1b-1071-4de0-9e21-4b47c58a1399 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6815181-f858-4932-90d1-457ec83c1be6 CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e27818a-4e28-4d8c-ab5d-297e68428e40 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b15510a-2bce-4f03-bdc6-d6a8299f1627 CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5199db8f-6014-4cee-8e37-8bcb9ebccbef CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f68d034c-0030-4cbd-92e4-5afc90907488 CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913de440-1ecb-4eed-bbe8-98f2a77a341d CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9475f4c7-e8e1-4e15-9752-2e30899a7316 CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12c05ca-c3c1-4194-8088-b9de831ee252 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db9fd14b-df79-4ca3-bfb8-c1406f9761ac CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db5d7681-550b-45d6-b52f-645fee2ca6dc CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6f2c626-9f83-4544-8fad-55a3801e4cac CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ce4811-9b2d-40fc-84b9-1cf5dea5c628 CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91ed58f1-586c-47fb-840e-2fd36d57bc5c CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e60baa-64fa-4dda-8118-bd5e93c438d4 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1771536-9f03-4155-a665-ef29148afed4 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc51cc9-7945-4af4-b806-5728497e561a CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b044a836-d91e-4247-b2b1-81746fd467b8 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c942b97-f77c-495c-bbed-2f1c6f27490a CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ebd84a0-0481-4310-bced-20bf035d5dc9 CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f6f705-37e4-4c82-adac-966b2dd64a1e CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bad1e444-bf16-4627-a44d-a19f30810189 CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4e2354-cac3-471f-8977-7e9288d23f03 CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 941251f4-f6a5-452c-801f-031e3db15a23 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186caee9-6c66-4913-9985-5a145a97f091 CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9be8473-cc74-4c7f-85ae-3dad4d2fba55 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f099484-21b7-4faa-8fee-c614cba03807 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e67ff0f-c57e-4523-ab7b-15a8925a4a62 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897f7c90-d1a6-4443-a099-fcaa380a2ef1 CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b99eaa5-c755-49d1-8516-714af750f316 CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359fa9db-40b5-4a5a-b18d-4ea693ef5f67 CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ed90a70-b1d9-439f-a81c-fb1e8c9dfb05 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ddd72f0-1c4b-4e41-8b09-c9f35f4485fa CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 470b7af4-fe4e-4bcd-a9b0-794fc6de55c8 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd68c8ac-860b-40d3-a374-2d44864ff9a0 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd2138c2-c6bf-4e1b-abb0-d8c8c029740c CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8821c6b8-bb5e-4bac-b555-311f3189cc32 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5006f5b-99e8-498f-8c2f-b559a5bbb0a4 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290ae9ec-d873-46ce-96dc-b03ca78f5d3a CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1e9dbd5-043f-426f-b576-095b2785cb0f CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0e33a8-b22c-4687-84f5-6ac2b1fa651c CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54d29f41-f1a9-4234-a515-d428e3f695d9 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23851e5-e248-4474-960c-5da2491095d0 CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cae39575-37ce-41f7-9bd9-59c1a0dd466f CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f67484-d956-4054-b5da-8f23cc3ad8b4 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a467d9ac-8234-4328-9ab6-fe4b192d4b26 CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a9023e-29d7-4da3-aa7a-25283d8a9ffd CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f18f3606-1e0a-4700-8e26-555927747875 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedc017b-d6bc-496b-bd83-78f96c870940 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8e66d97-9dfb-450c-9375-23350fb2d08a CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f69b04-9598-4dd9-90cc-a6710e409718 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf759f7d-73ec-4e7e-b7b9-de3e9f742e3a CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2571646d-0fb9-4aec-9ac6-dac9ed6bea29 CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9340adfb-165f-46ba-a45a-e107c086aef9 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5262b4a6-3a20-49a0-a807-de43f3bb44c4 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bd86370-c5a4-4dbd-9059-4ac2723a4b6b CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e9031f-3b0b-4cac-a39c-bb0fe9c2b133 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8a894e0-f7ce-4dec-b203-d7308dd4d391 CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0715de3f-5897-4a51-9173-9cb59fe4f924 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 904085e5-a855-4f54-b887-1998576e9767 CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7bfddc-4a2f-4db1-b1b0-01b9b95f74a2 CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 541e968e-cbfb-4ce4-91f1-1b03d1d0fc62 CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de7a6b3-a8b0-4ddf-95f9-67b4bf63995a CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e197f064-4099-4418-9d36-8d57ea59edd0 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10512bdb-bb1d-4cef-9854-83343231a456 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df32fdd3-f7d3-4e53-9c32-0d48d1dbb02b CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884dbc91-13e9-4192-8890-199ebc35188d CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7c1f8be-e08e-4e28-b8b3-4890d4102d53 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f997417-5a7b-4aee-a789-0cf225e8859f CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1c44770-3d60-449a-9146-570882d28fc6 CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530f7702-6779-4702-9eb9-25c4714e6f6d CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecb31a4e-42ed-479f-8aec-faafd20df247 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f326b9c-000b-4dd2-a3b1-bdc55d136201 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31705311-04f7-4cf3-a3bc-233410e9da02 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9096bcb5-9b00-4149-be12-0bceb249e84d CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc2c674f-5c25-4e87-bcfe-b3f141a65f65 CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05eca42-4bbb-4596-97dd-3b5e6a69818c CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec1f81c8-3d46-4489-9861-5fc9bafdbe3e CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1becf595-93f3-4f36-a8ae-e7e2d2aa5d4f CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 367c76c3-00d1-4ff2-9820-7be2d4d939f2 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94568f31-aea4-4448-9a65-28e3259b5570 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1490bacd-415b-4b03-9047-a513dbb7b97c CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7a7316-d708-4b1c-aa20-6e732629d434 CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d91cc26d-99ba-4f9c-92bc-61e6541906e0 CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9640e4bb-f1ef-434c-a47b-0f9ede8d63dd CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d031078-a21d-411f-96d6-255111649eba CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a139402-f0d2-4d73-a8f0-f50baeeaf8c9 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10744712-34c4-4e5a-a84b-d72cc8967772 CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0612259-e5b8-4eeb-9dac-034c87aca2a0 CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4f2f74f-a7fe-490c-be37-3bec1c4c77c0 CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571da549-1e15-485a-89e0-3243b56bce88 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5688bd59-e640-48e3-9ce2-e3f1fe052c28 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfb325c-ebcc-408e-a7a5-b7eec675b830 CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48417602-f2ba-420f-b0ae-800ab7b39064 CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56b4882-63c0-4dde-ad46-f43572f3bd77 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 644c6954-6ba2-4ba0-ab5d-d652b0602fba CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b97a1d-5f2d-438e-986e-4d93a6840911 CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94c33b92-7ae4-4d27-97a8-41d668c1da63 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbb2885-501a-48f6-b1f6-4dd557ff5c26 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f3e651c-0410-4c10-93e6-7e332cc5058e CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9659dfc-054f-43ee-8cf4-fa2d60ebb059 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d405fdf7-abd7-4a19-b2a6-0b9a4e2a8766 CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fc251c-1629-4078-9c1a-131c40bc9ccb CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54c78d7c-3883-4d24-86bc-28b6f0f18b26 CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f02e01d-795f-4db9-9f27-54ea89a10cc9 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9cf38b5d-e52f-4dca-a1af-437c6ee39d82 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f117e0-398e-4475-a8a1-c320826f3bb1 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08c6c5c5-9811-4930-a153-283c35c3a1ce CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef368dfa-9a76-4d49-8ef8-ca583e1e20f1 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae40a769-49c0-44f0-a52c-c173158cbb4f CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e79235cd-d4f1-41b0-981d-892af7bcec62 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eaa23f2e-6ada-4466-b8d9-f58b48227088 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c6cfb7-c0c4-4e47-95a5-6ca7fd119da3 CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 482723fc-a0a8-4c59-8912-42d14d62eaf5 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a569da-8e67-4fc8-8340-e2146796f331 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1a20015-15bd-4e8d-9e90-5ec4dae742aa CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e21d01-181d-43d2-8cb9-4ec760bda0af CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0116530-f0c2-4ac9-9f77-85b3bc574219 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9f6c01-e730-44b4-92c3-b6c60e446f68 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f5c1bcd-fa2b-4956-84db-230295999a63 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b3015f-7147-40d9-baf4-faf4df1f48ed CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c43531-d5de-4b47-9ef1-9cee90c8f3c7 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe89e6b-07bb-46a8-9418-3358821b8783 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e53a0104-d7fb-411c-b75c-60f8e7b72393 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846054f8-f4c1-4836-9b6f-88c8e68fbc3a CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f26c154-3257-4d72-a567-600877ee6b70 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1a6ca8-ed5c-44b9-823b-7663f8f8698d CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 899a5876-53ed-45ad-a70e-bfd8ebde896a CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8a1701-0b50-4009-a556-0f48c231b3f8 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9605c5d2-1ae7-4a03-8fec-272f8d143e73 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b240c78c-c0dc-4ebd-b548-0cff72f1271a CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fbc6204-1aae-404a-ae59-5b1de25817af CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c2327b-25ef-48b1-9779-33e93de85542 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 611223fa-e3bd-40f3-bed5-933aa382c379 CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0e1f8c-b49b-48f5-a5be-523214459208 CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f3981f9-6723-4f3c-b823-01969c38ea81 CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb104c3e-aa96-435a-a1d6-def2a903d462 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e6f1372-c1db-4224-b8bf-47323297c7bc CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39b5e83-ebb7-477f-ab03-4910d0689585 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f77fa861-685f-4ba8-83d6-9a425af24f20 CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31508f7-8369-4b35-b3b3-96baa4b8de7f CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e0bd4ff-80b7-478d-a135-20339cf11c7e CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92916612-8e51-4100-8db1-4de9410023ee CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7425e806-5ecf-4a46-89c1-8c1891d4b06b CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28afd848-eaf4-4157-803c-1aacbbf9cb7a CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75c0445b-fd20-40be-aeb8-45c4d2ea1c9f CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6050c5-5354-4edf-99a3-1b9a04b920c8 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 425c031f-b7e6-4ab8-b156-ec04830be702 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cffe57-fe24-4924-9776-6f9a6258f667 CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f5c3012-f194-4064-a14c-ed99d0e6d5a8 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160823e2-4a0f-4c12-8a6d-c419114132f7 CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1124943-6c6d-4170-bdcc-f238609e98de CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67783991-b3bb-4d8f-8468-36e2a9557bfa CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6f70ac7-a59e-4473-ac13-73a206929de1 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff71a102-13e9-4afe-998d-79715520df00 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8b64508-d952-4e47-baed-27d40c37dd17 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1feb0fb0-535f-4550-953d-fa9b8eec1b08 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb6959af-8030-4263-94ad-f7704d098332 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594756c9-d97f-4386-a102-19b517af12d0 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c94bec4-fd4f-4597-b0c4-d8ded6e6e02d CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88db605c-0f51-466f-a7a0-6635068bfd53 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 020f3fb8-460f-4d46-9553-dc1c59d34718 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226abfcd-71aa-4308-83f9-6cf29ba2f3e7 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54126395-b726-4525-b7ef-6759d94b79f0 CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44615f8e-29e1-4cef-b80c-5730d304df48 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3225b91-db39-44ec-bfc6-b484f55535b8 CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00928b12-d8fc-4d56-a998-ae1d60a023f2 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb94f1e5-9899-4fcd-aaa4-e37b5df0e6e4 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c8779c-bba9-467a-a835-df695dc44a6d CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3dcf250c-93c3-4bb0-87de-82ad7d4c6d17 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147994ab-b8c0-4df5-930c-4eb84d2148d6 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0752f2d-ad44-4df0-a600-34187a11e0de CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e529673-1b09-4423-99a1-b6acc1c58331 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a728c31-01ca-4f07-a888-64b4d079aa7f CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94689c11-3d9e-4edf-b6cc-f50a3bdf9afb CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cfa7dbd-6ae2-4586-8b30-3cfc320c417f CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e56af3-e946-4dbc-b620-ab3d6a8151d9 CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b4f40df-fee5-49e6-99d1-31f707ab02de CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eddb31a-c67a-43ec-9d43-7ef5dcf21616 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e681c09a-9618-4b04-867d-6952682456a7 CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba44625-a778-4dae-9474-50c099a1e567 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71fe7838-8af8-4abb-a2d6-13d1bba9b66e CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ab98cf-cecc-4999-92c7-cba0cf022294 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e79a23d9-d241-4f0f-b38b-13b78c5d7cd5 CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07e460b-638f-49b2-af88-653561cd78c0 CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5333511-47ea-4047-b107-4a0e52c88267 CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5aa95e-0446-4ff5-a627-60ce01bd6458 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62b56077-cca6-41b0-817c-cc1f2d27b286 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2050fe9a-de16-4a42-bdca-8163dbf65caa CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75d83054-106d-4795-9ca5-44efab589fd7 CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6791272e-15de-4657-8a99-c3f6e131ab14 CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9f1a933-c84b-4b77-b305-f16f0b73d2c7 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1932d46b-f289-4b26-ac5f-c137c959dcd3 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a60fd7e-02e4-4a8a-987f-13cec4ea90a0 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b7320d-f0fe-4998-a7aa-3ee1248bb2c2 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98563438-380b-48d7-8d7d-7ec813110a16 CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a7d795-b991-4bba-bde0-5ffce69c8e6e CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a60434c8-e498-4ad5-bb59-8c9e645f8cbd CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3f89d5-b58a-4c8d-9562-d2cb7040b1f0 CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eeaf2ea7-df6a-4ef0-9af4-70dc3c6525d7 CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612d5d22-5f21-4c29-a7cd-83a8b19a0a29 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecddb878-cb8a-43b3-b4b5-ff40df77c096 CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc96f7b-acd1-4581-9fa8-a47c33b2c99e CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b899a0fb-e5b7-459e-b98c-ce7b5c101698 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486e9162-0b96-4e3f-91a0-2253fed7a2f1 CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fae28a5-c794-46e0-bb42-9ffd7ea9ce24 CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b075526-b6b0-4818-ae80-4ac40d6d156a CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b858be-c4a2-48e7-85b9-e5d86337770f CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650cc135-0b00-4a45-9f07-ac13590e653d CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 601f2c1a-0ee9-4d21-aa87-cda52fba7920 CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b48e45b-2eca-49e3-812b-fca92810bd8e CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8b7aa81-94c9-478d-a69b-aa733460f893 CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbc6f2a-940c-47b0-8ff3-8ecad9eec24a CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0360fabc-232a-4320-bbc0-c7f79b38d618 CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4263b588-ac1a-41a0-b259-ec6aaee40d7f CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d311a9e3-a04c-4638-be85-e631dbfe99c7 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09faae9f-4647-4787-90ee-a84e9f1b52d3 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a3c57e7-2dfe-4611-9249-916ab3ace716 CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac1eb5d-b8dd-4bea-b961-551f8aedfd59 CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24f530fc-36b9-4f09-ae43-001ba78e53ed CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cae8ec3-b7b3-4e31-a17c-db8c6e280e2e CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e683fbb-5a31-4884-adfb-1bde81708bc7 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7c88d3-a4b9-46cd-8fb9-28458eda847e CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 007d0636-60db-44f1-9670-6321e8d43eea CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a75593a-d087-4fcf-8d1e-b9eef19d0fc7 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34693f34-7486-414c-b127-530ebfef4f09 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9503df06-e994-4b27-ac34-f63721e7b1f4 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59254129-ef2f-439e-a849-639208281a01 CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd1a4bf-cca9-492d-bda4-ad29fb8dbc72 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95ef5d0d-ca27-4f43-b642-8cab234cac38 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b97c01f-3636-46e5-aae6-9a64105b1218 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01bf44ae-94e0-4ebc-804c-e9cbda392fbe CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2944f8b-924b-43db-94f1-f5b8a609c3ef CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5febd169-b0d4-41df-8f34-3525f5916bf7 CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76ca3a6-33c2-41f8-93e3-687419ca8600 CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef7f9fcb-b0b7-422d-9178-bf18b54870ad CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6493b36f-164e-4f9d-808f-eca5a15c7e77 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58d235dc-a15a-4bc9-9d7c-8910b95c2dbf CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04668505-7d83-46d7-ba71-224908bac51c CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31520ebb-145a-48c3-9adb-7cdebdea929c CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11adfe48-9039-43c2-91e4-d8db6face6b9 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e74d6ce2-d5a2-4141-b497-c9e68ada1d94 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b952f2a9-2dc4-4abf-81ba-ffa112c63842 CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed36a445-9cbb-462a-b655-3390e62f7f5d CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb4bda9-fbe2-4974-9f3d-4ec087e85dc5 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdb0a16b-4be2-4533-8389-7f239ead7d5c CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423554ec-ba46-4bf5-a20a-43330d3db5c3 CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5828d48-5645-4dd2-993a-df72636fa2c9 CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6ee76a-5b7c-4dcb-9e11-097ae799e3dc CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff135156-21f2-41d7-b3d9-7c27b3ad9707 CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022a3d1e-4fee-49af-b6ae-ff168a6bacf5 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa6c0732-5c5e-466c-b032-592a1a512887 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb20c206-b752-46ae-bcbb-a42bf237e445 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4b74701-6715-4dba-a532-2a2fd8221214 CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d31ebce-88bd-4dca-a890-96bdfd845527 CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9cb73e0-97a7-4ffb-b60b-2447fe7665ca CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90609e1a-4432-4882-a1ef-361a536e2310 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7543efa0-c140-45c4-8966-778bc9d88c5d CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fd1145-955a-42a6-ab2f-d9b33eb12429 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 723ee56e-ae5b-4583-944e-ca6520410712 CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03bf392-7e8d-4564-b2e0-64f7deaa06e8 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b7e21b7-332c-457f-8ed7-3edff9ee18f4 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977eef77-c9e0-4c5d-ac43-32d62bbc76f6 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fddd44da-3d93-405b-bd16-0ec3e8cb1524 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea65f352-021c-4883-aecc-bed991dff4db CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55add3ef-2c81-4cc0-8ed8-d7caab8b04b0 CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc969041-88a3-4a76-bad6-57822e1fbea0 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89fd9f79-c22e-41bd-b8fa-982030bae89e CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40d3fa7-46b0-43b4-bfbe-79b42a034f71 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5e18e82-c1a6-4848-88da-f26d5f0f323c CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a155df8-d1ee-4bbd-89ca-50beabfb8bcb CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce1117c3-b90d-4baf-8ab0-03cf5fa3f108 CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659e13a1-2835-4aa1-91a9-20b399c95424 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c871d28-34d3-4436-abba-201e03c83066 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8539f847-0c29-4437-820e-b103fbc47c85 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83aee49b-3450-4e48-902e-3e7be364c192 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8551e9-641f-412e-a711-fc536bc3c5df CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 056b78de-5e2f-44f6-9677-cf750eb6ea00 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2522719e-65c7-49c6-bb29-bcac489ea454 CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdceec0d-75f8-4039-95b0-0826e00d01e5 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ddd8c2-c2f8-420b-a206-dae15aed89d2 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbcd8ec8-6045-41c3-a64a-d93d1a9822b3 CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebee0b99-2d54-41af-8e9c-dd742902d24e CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdd3e9f3-299c-4d94-822f-13176b2f8c00 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb4e579-f7b2-4e5c-ade0-ef8ad405bced CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 502effd7-3d1a-445c-a4fa-7fb07333f459 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87426a68-d258-41ce-ac89-d6d38260817f CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34d84f6c-42c6-45c5-bafe-40b64eac1301 CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a74da38-45c3-4c43-a98f-135f45544df5 CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f86a11c6-cc6e-466b-9b4c-79b6410f69c7 CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd9664a-ec00-4803-b4e9-c501d092ebdd CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9abae8a-753e-4198-a6e2-3fc1c888c2cc CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1182ce4-33d0-469b-bcbb-9c357d4577ac CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59692c43-bd9f-49b4-8711-38370a083968 CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b869d76-09c8-4f7d-9184-29a87490832f CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cb7d356-2d5e-4a32-b487-a5fcb60e1af5 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c5e57e9-d2e7-410c-8c37-8637c1698c6c CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dedc277-0a43-467e-9bfc-d743e8b35b4b CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81bf6385-d7f7-4619-9e03-ef9d8bab86ef CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5196c16c-e78b-4cf7-a48a-aaaf7b4b4ec9 CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e0899b-04b0-41d6-9a9c-902fe94bc497 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 144f55b3-6fca-492d-85a5-97892bcf1be2 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbce1f70-5521-4776-8c5e-414ff00db27a CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9488d7d1-5010-458d-9436-538f1323eee7 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcc748e-738c-4679-a020-03f55388dae5 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f69b0536-c48f-49ae-9330-46d03b69fb2e CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17877232-39de-4fac-bd11-9d4eb7d1c20f CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6a68c20-719d-46d6-a6e2-cd2d4e5768f0 CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e78aa3-b95e-4655-a0fa-6ac3786ba03e CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e6665e9-b1cc-4074-9f45-01973b9738e1 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30081ce-8058-4961-bce6-5a28f73495d6 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4aeb2fc9-05a1-422d-95fd-1c2cf54c1a09 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8994b0e-eab9-4e68-bd1e-69efbcaf3aec CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b203e2f-5135-4d81-90ad-124cb534ec7d CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d0380e-1930-4dca-8896-8c9ef4a3db45 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 878f885a-077d-4ee1-bd4c-91f69c14276c CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8033187e-a83e-4d7a-983c-d80846730941 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a69c8244-8c29-48ee-b1ef-d8bec8fcfe6a CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ddcd28-ae88-4eb7-8560-e741896ba30d CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47f584ec-75e3-4490-a312-94e52182e57b CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea6d9f6-e362-4e35-8ac0-f3adc2190190 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b077e657-9fd6-4546-b49f-a19f37ed7acc CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4067ca71-6039-46e3-b57c-26dd5a6285c7 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c68431f-258b-4f27-b987-230063040854 CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47b6981-e7d6-4940-a2b0-d78e0f44e16a CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17542e07-be3a-4c3d-828c-2943001cd431 CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f741a5-1835-44ee-af4c-f77d02fd7088 CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 673666a8-5e22-4fdd-a1af-d340b5bca30d CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17faf297-b778-4fc8-929f-0ccaf155fd33 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 975f7d3d-dd53-4726-a7a4-b5efd0b03e25 CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464c424b-5579-4de6-986d-345ca8299986 CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15580cc3-eb68-4caa-baad-4f969ce07a0f CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236a7014-df35-4dfe-a8b5-68419934b33c CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5b78fb4-b4bc-460b-adcc-40833c566e9e CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3f6169-df49-4852-86f3-c93c1cdeec7e CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df9ae388-b71d-4265-8338-b40ef91b0fce CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e25e803-f2cc-4e24-bceb-35337e8be9fb CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 650de0a3-179e-4e23-9d36-c9f6d3a35eb8 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae37140-20b5-4a9d-acfa-ca2e3ab4625b CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de9c2864-912a-4096-9c30-f6a78c78f93d CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f81273-100a-45b9-b78b-0b1afe7ec076 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deb275a0-6aa7-4aaa-9ab6-9be0ea5e05d7 CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f11a05cb-9840-4943-a09c-fca70deb3712 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d529926-537c-42d4-a390-3e751d2b5090 CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c76cd3-13c6-4beb-a9d9-00ff0e29260b CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 896d9e6b-8301-4144-aa5b-a509363a5050 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807b642f-fd75-4495-a159-e5c86df06dba CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d079a185-96f0-4f72-bcbf-fa4deb9412b8 CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fdacd73-6459-47c3-92cd-2dc3e1da9256 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1f6c478-3502-4063-9736-6ca789e33074 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e0f5f4-05c8-42e0-97d6-17ac716c9801 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21fd0ebd-40bf-4396-8119-1665c12ab69f CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f7c43-3ac9-4282-8c00-8b6e83366c98 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8de532cb-6612-4e11-92a1-02bbdd6c0340 CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a9995b-4a4d-4a99-892d-8aa418e64f6b CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59f3bcbf-3f10-4665-92e2-689fe7bf5eda CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ce8636-3e3a-4524-831e-9dbf8bb67ebc CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 221c0f19-b727-41e1-805d-f00565c6c903 CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c366b43-d6c7-468d-82e8-bd7418af0a16 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a31348e4-b6d2-4c9b-80d5-d95c31150ebe CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907f9471-3564-4289-b53a-b4350ec684f8 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6cd7f48-4e9a-41e6-be53-4804841c92c3 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be40c836-03a4-43e2-aaae-3c47ae18578d CLINVAR:590575 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7445010f-5285-4c4e-aeda-899b9c899a46 CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d11388-bfd2-4ef5-95cb-5c8bba5eee86 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c667546-b04e-4834-abfa-034e7c13f4a1 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f5a79c-49bf-4e6c-b5e6-beb6e6f3515b CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ae6e8bd-ec42-49c5-8910-865314ee35a2 CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60ae208-09a0-4b2e-9c31-74db37f9042f CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen addabedb-bef5-45c0-a539-d159ce5acd45 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9b9080-15d1-43f2-914c-22099b7bd3de CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca10cfae-2f80-4d39-a959-d0da984564fd CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147cf4d8-6e46-45bf-8495-acbea89c7290 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48aaa4e3-cba2-4901-a481-704efc9137f4 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4650630-9e89-4724-ba64-b5ba330130ed CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c4f65be-4b4b-4b8c-8f24-4c00a395c728 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80926888-4bbb-4a43-9876-2b4ad5309bfb CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6908d65a-eb2e-4246-963a-a70e8afa76f2 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a2ab91-0ff6-4260-b25c-5d3488a7f53e CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c15de18-392a-4054-a32c-da14bb852e08 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84fe7663-418d-49dd-911a-9a78e1b1bfc5 CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c73dba8e-1109-48b3-adb5-e088f2ebf983 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d0f717-87ed-494e-8709-f7f928281145 CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2da44dc3-d361-4cd0-a0a2-5c23724167c8 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171711e2-91be-4c94-937c-a58bfc35c012 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f60dfc8-fbbf-4e76-b5d8-df75160834aa CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2059dde1-b101-4ede-b259-927914b24d12 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a463f4ee-cf3c-4a6c-84ba-7b72707d8213 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795a951b-098c-443d-a3cb-3eb6f236f5ce CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 905078d7-d664-47e8-a398-579a908442b2 CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67691e8d-a150-4ec5-8f26-bd7b1e0ad64d CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 263ec6b2-c6b1-4df9-ab23-8f7dc55b0864 CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc5afa72-08eb-467a-b238-cd1f1b4e961c CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 855bc65d-cf61-43df-9b90-964b8fcbe7ab CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a907ab-e4dd-48e9-b746-ec3060300151 CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 285fed70-a940-4e83-b061-3dcfe9dbea60 CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f000554-b032-4d5f-89df-afed03c23825 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5053b4c2-73cd-4d0e-b48e-d3e2fb5eea97 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2577aef0-b609-4f56-b8c8-363005f0407c CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8cf87b0-5a89-4845-8c49-1d9cc5adcfaa CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b5a624-0278-48b4-b007-07d327a15255 CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a1de9c4-03fb-4593-b06e-9256cfe9b3c0 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94dccb2f-2f68-456b-b782-bcdc063c2af8 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 044105cd-f185-4408-9eb9-782ebe895ccf CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18be57f8-fea8-4386-81ed-7ab6195f834d CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2694b71-af40-4410-8769-0fbf75f80eb6 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a9810a-38f6-4a0b-97ce-123aeda854e8 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 104060f4-22af-420b-9017-48f6501ff986 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911b6356-cf6b-4ddf-857c-76e9fbadaa51 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff501b29-8f79-4f00-ab9e-6afb037ddf7d CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842bbae4-ef03-4783-8a51-753bdafe00e9 CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94b61a2a-ee65-4f9c-b6cf-f12a296b778b CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2851f0b-526e-4f70-95e5-77d3a304f590 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4af822d-77af-43b0-9008-c5eddbf014b8 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e6f239-74a9-4541-989f-3203ca1b9c14 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3767d33-184c-4a2c-be70-a7b5fe8a664c CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb3109c-bc69-4147-8987-b6adf46ea933 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95b10e59-7298-4bf7-b297-cef146f5c34b CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2253c321-68ac-4c85-9e48-5486315c21b5 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca46fd30-a80d-4789-b8ad-f520801f3a8d CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbbdf55-c621-480b-a8cd-2073beaba31a CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ffb33f5-8174-4163-9d77-b76d9557d2e7 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2a206f-3a4f-4f58-997e-70921155201d CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1f6c633-7249-4965-8d32-2919e27b1ec5 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776647c7-0721-4417-9491-05fbe018667a CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a951b471-8229-4c8d-afc5-09c03d275469 CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac82a7a-f537-4a54-b77e-90eaf938212b CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b30dbdf-7e95-4f82-a6fc-cdd9c623e5ea CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5847060c-78ac-4b3c-a8c1-c20c24f40f1f CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71409555-4965-4567-a3c3-bbc68c3ab891 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbfea2e-4a8f-4cd1-9986-f17eefd793b7 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d02c257c-23ff-48e7-bc49-c0ef7ca440ef CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb89a40-a873-4b18-8ea6-355711804aed CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d16d69d-5d9f-414a-9cd4-15da7f64c36f CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce68136a-9ee8-47a1-970a-a7c30490ea57 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7bfd34ce-fff5-4903-a8ed-9fa4dd419adc CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebeb9595-13cd-4583-8c7e-56b5fedd4646 CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e21f555e-43fe-4474-82e3-d7f178e3cce8 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e003a9-6985-4ca8-895c-252cef449f46 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b1d661c-658f-4076-bb57-fa58bb5c707b CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ff777d-568b-4018-ad6f-615818fe9a26 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 066898ff-915f-42e7-a7a3-89a096a1cc05 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70e81b0-2af6-4c71-98db-9412ce16d8cc CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c2b8ac2-6237-4151-8021-7f3929053f33 CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0eccae-895e-4f0b-b95f-bb940c7c5fb2 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2b03c0e-99b2-4fed-b33c-cf054c79618a CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81962ba-ed92-46ba-94cd-5732f0827d13 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31f74c92-cc5d-4d20-8de9-ef81a001181f CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc0be14-9760-4d08-b4ca-d80e1e6f8923 CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cca9bf8-9032-41b3-b98b-b09d370a2f4c CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1e6337-8050-4368-bb05-5f2d8718948d CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af1ed3ea-ded0-426e-99b8-f49547c49b3d CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b1f4a5-357f-4498-a44b-f39c3640027f CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 335914df-211d-4845-bb2c-87ae92970324 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1d6af0-5912-4c5f-a577-8935f0fb8377 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de1e64ff-5e33-412b-b4fb-dbbde11faebb CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8f6949-a0af-4bb0-a8d5-7030bf85a851 CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46ae7e6e-3b24-465a-8c3f-21bb9279a20d CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e498449d-eb96-4bb2-b809-fef5cee853a4 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7895d58a-25f5-4eac-9d57-624115d13e4e CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47308439-bce4-488e-9a03-d348e240cd9f CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38bd265e-0553-4909-b17b-42a8b7fa87c2 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436466e1-bccc-417d-8c07-baa464acdd2f CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58a6e36d-4c12-42d1-a457-8737613772fa CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bc96c2-7b63-47c6-bd8c-435e70a2458e CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a08682c4-8030-48a5-9117-4a7684b61451 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5be481-774e-4296-8aba-04ac1b5f6f1a CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57956378-c601-49dc-be44-5bba94802309 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc73ae3-1e06-40d7-a8c9-b4529a0c6410 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20094675-8289-4ffa-94c9-c864ff189872 CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe73dfae-b824-489d-a3b0-75e38497f1dd CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c404a594-2083-4553-9202-9affc656d156 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc65c6b2-cbf1-43d4-853c-99279a2b4512 CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10752d00-4c9e-4191-9ff0-d1a60b5b402f CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c837b10d-4829-49d2-a2f7-ba3242b5423e CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21b5ab10-fff6-4271-8ae0-8a337857f754 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35374655-8d83-4260-8cd1-34c1a9b4b858 CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a48a6eca-8841-4bab-a052-dcd7976862b1 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b339724-30e1-4300-a134-4a340f2a51a6 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecfe4f18-a3f1-40c3-862f-566867f0949c CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0959e3ae-b6fa-4be6-972d-564a8df88d9b CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b33527a-4d5e-4c46-a862-1a41e448500b CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c776773b-a1ff-4cdd-94ab-4351c77f632a CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94c1e33d-43a8-4548-afc7-b4c48f0dacdb CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b48ebe1-bbdd-419b-8a77-f9aaf174d241 CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da57da37-cd30-44d6-9468-2048b250851d CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e5d415-e569-45d0-81c9-6a83726e90a0 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caeb6d1f-4d63-4b29-9f71-9569650400ff CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee57257-8efd-4030-9858-197c5ad22a55 CLINVAR:133163 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8573608a-dd2c-4bc9-8a14-40baf5f4cdd3 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba14411c-2210-45fb-8773-9c27bb9aa75a CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e67c7db5-7c50-4d63-bdf9-eeea048280c2 CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe2f7db-f178-4aac-af32-b911da3766d4 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cf7c4c3-10be-4d1e-9641-df1cd09b47e9 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455ca358-6fd3-41f7-89a6-9d11ac3b96fb CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29d98ad7-7323-4596-b8b0-da2a3fe70ae4 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd37222-3dad-4990-8125-3e692e502db1 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1ee9489-ba0e-4a95-b998-85ab61fb7de0 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30019c82-fcc2-4ab7-9e73-099cd654cbf6 CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 896b73d8-e215-4b26-8d1a-c9b0bee39859 CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4627c25-754e-4241-a21c-0720231273b6 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b432aafa-e964-4e69-aa6e-a449ff26e606 CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65c5013-9e4f-40b6-a457-cbd085e84234 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc82c49d-ec14-41b9-b636-51f076dd7c81 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b456a9-5f62-45e4-8094-cb859d1bee32 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a104e1e7-4537-4d18-88ea-81381185152e CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5da048-5ab1-43d8-ada8-a7c7d5abf73f CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c962ac50-f1cd-4880-a608-37e1aa6a69e5 CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa61406-454f-4d0b-a62c-9841a2570c12 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a53b521-dd3a-47ad-a907-9f30b00e5776 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d60f687-470d-4a62-ab45-ff76856e5122 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30e08fe4-72b3-4354-9398-d3757ff8eeb3 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bc7c7a-5d8d-4fd5-97f9-f38c39729935 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 146ba8ff-afa0-4d5c-becf-8d45a820fa6c CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abec44dc-3217-45a2-bbde-3d1bc39ecac0 CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01547e51-b4ab-4750-a370-bbf41614ec07 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f0ad51-be7b-4ce1-a7e1-177623add55d CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80352d98-f345-4e92-b70e-0252528b4c57 CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73020779-374b-48a4-b39a-ff5c864e9589 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe61b78d-76ff-4d58-bfbe-6e396098cbba CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e13a86b-3d92-45bb-8b4e-707b289d8e88 CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2713da96-6f97-4052-829d-6142946e61ee CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11369d79-3ceb-4720-ab2e-33dba697c38b CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbe6934e-c699-4f66-a17f-f6affb3c4d8a CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8caa0851-c3c7-4d58-a090-e4c39c47371d CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20289b95-4af2-4d4d-9228-39bcd7ad65b8 CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b41c0b7-d391-47f1-b1d5-d4b97d54253d CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cfe8dc46-598f-4fa7-a04c-adbae311cc7f CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6f65ca-7f70-4f1d-855b-b804c3b1d4b1 CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88dd5b7d-268b-43d7-9e75-478584db5f95 CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1674676d-1504-4d71-8389-a2aa15219913 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 794f3fba-851c-4d5f-969e-157fcd4c81fa CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5b82a9-ac55-4ae2-8f5e-d2081e153d02 CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f935ad58-2e58-4cb6-97a5-d69cd7991ae7 CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f5c925-2075-4021-a147-41b73c7d1b0c CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73a47837-3272-4d46-be32-a782fc795021 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc558cc-3ecd-457c-8554-b7a521b93bb6 CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cffe9847-779b-4359-861e-8b0fd7359a6d CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18036cc-6001-483c-8e6d-2b1f0d9b75e8 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6dcd76c-941d-44c2-ab5e-bd785c99088a CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02256261-bfe1-4fd6-8fbd-cedaae334abd CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae820934-676a-4b1e-93a5-4c5cc6dcf5c7 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8a96d9-901e-4379-8eae-0332527cf4e1 CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9dddc14-578c-43e7-abd5-dd6c600ca9ab CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1180789-ebc1-4419-aaf9-e893d13243c7 CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffda8e31-9a57-4359-b050-23d1ad34c32a CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cbb993-de9f-4225-92d0-1388859a468c CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ffc3594-7968-437c-9c76-4f8437e29d40 CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b755b9-bbf7-4631-ade8-1a5ece879cc9 CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 803ca9c8-28fb-4f49-9289-c0e86de3cb17 CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e44ac24-4c2e-4486-8d19-6c3f45e05e70 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6693bd19-8af1-4ce8-87b3-c35f8705319d CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec86799-35a9-4d46-ae34-51eb7b2a9994 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb4064f5-992e-49b9-b9a5-22ad84f8d9c1 CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b9c141-3c27-4bff-8daf-6f7c2c588b1d CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 183bc91f-6dff-417c-b637-7af554387337 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b7bb42-91da-4eeb-b146-97220d8a69c9 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 302f7e91-4931-438b-bfad-6c9d6ad4f5d3 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f5c4ed-8b15-43d6-b24e-312f80ffb8ad CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b27bc78a-1230-4753-97e8-fc3cde46f631 CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f04a0d-2a15-44b7-9ece-2af5f8d03b65 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7107526-625a-42a7-818f-c8d7396bc7d6 CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1d75e2-25cb-4777-8c29-24e1e8e8548b CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99fe4209-07b9-4965-881a-637b343fd45b CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6daf1b4d-dad8-4224-9ae0-b8f95de25c0a CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 357abdbd-964a-4a17-92c0-ac2ffc82b70e CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05620ed-229b-4cf0-b70b-7f69528ca950 CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db78268d-6bef-41f3-9e4d-40e7154f3f85 CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0052dbe-cba5-4894-b20d-652a78ad75e7 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35018f7c-363a-4c7d-8030-314621ed037c CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea53f0d5-1307-4ffe-bce4-ec4e5f284616 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1b5499b-bfa6-4f9d-bd5c-4d01e1563ba9 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c57fbb-33ed-47b6-a575-893d5448dc5e CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc73d438-871f-480a-a30a-287e907b06b4 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed0da72-9f37-4492-8bd9-d336c0c4b377 CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8df5523f-0cf3-4ce1-8d5e-d2a66fc08390 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710bd477-046c-4eaa-8022-9afe1afd01e7 CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9cf0314-51f7-4b76-8de0-2d600cec14af CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14fcdb2-3db3-494e-b05c-61fb7906374c CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05e7ca39-0360-40ef-b262-e3878b675f7c CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef06b11-6478-4bf6-b0bc-54a7e5197e74 CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37998ce9-a215-46fe-a4c0-13aa9deaba97 CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3876a7b-1368-4e00-9ad1-d1b2069f104a CLINVAR:406604 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 342d6a88-42df-4fbf-b060-07897b9e63af CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830f6366-e86f-4095-af07-2fc6cc888a2b CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59221713-b7ff-4bcc-a559-0324f9966ece CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f91bf42-eff6-4593-ae17-d4ff09fda017 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95a46aff-c776-4edd-924e-92546ec238c3 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696c9eae-b707-465b-a50c-3af70e7095f2 CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0022332-a556-4474-82c7-50ccdd65ef2e CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9906bd05-5e91-4e1e-959b-4b0f124043c6 CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28770954-f7b3-42eb-b638-77784deb154d CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641bd350-e44e-4b52-8a09-b9633718145e CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bfb33d5-fd7a-4049-926b-3959df1bf3c1 CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0efd77-6a75-4edb-b1a4-90b40ea5669e CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9ebff11-369a-4914-a6de-5eb980ded1d8 CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726ce205-b120-4363-b72f-8faff4e4e6fa CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c150c97c-be80-47b4-93c8-97fbbd08e185 CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48eab86f-5322-4b20-b319-7967e74c644d CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 972a1835-bbc1-44e9-b5b1-9a10773ed260 CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38927713-6205-4e5e-8d54-1b877161076d CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c49b0c09-194c-4504-a2f8-048fa5ca548c CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e6ddbc-2dcb-4e78-a676-ebef9bd52c7f CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 257462ad-fb6b-4a63-a3c7-4f5f5639263c CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afba83a9-29aa-4be4-b3b4-8d3feedd07a8 CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dd690d6-91a5-4a8a-98eb-acb988dd5300 CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e430cd50-b2af-473c-b5d8-65a9833972dd CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf1df770-9f38-45cf-ac3f-a95cf91f49c0 CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246451da-f2ce-4233-966c-d65c2ae38bf1 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33c52a76-9eea-43d4-9a51-0fcf2b118423 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060a932d-bb6a-4bb7-8065-d508e26cc4cf CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9b6e7ff-4a06-4403-8fab-2743faee5539 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c33bf9-078c-4608-bd32-1ba6eee33029 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen adb0b76b-13fb-41db-a5ec-ea03c896ac03 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6242a3a-f7ba-4a30-b26b-d262bdd24408 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d58266d-940f-444d-88dd-8196a0fdc40b CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3926cd4c-e1e9-4e36-a756-62cc82073dda CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6201d03c-d297-423b-95d3-6e789dbf0583 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf29b601-ae04-4d12-ae1e-a7221c88687f CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 763068f4-fa59-41de-8e25-47ab9777f8d3 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89315484-54b8-43e5-a4a4-f56b302fc053 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a0886f2-0665-4afd-a86a-e77658156a5b CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f50745e-afe5-4999-92c5-0ba840cad7b5 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0f5347c-1b42-499e-a145-8da2f3bb41b0 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670e0c55-b40f-448a-bcd5-43ed3ebb13d6 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e9e0fcd-bf37-454e-8421-1608afe2feef CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436fc000-9574-4c19-ac86-6ee593b344b7 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4ad55d9-5848-4188-8a91-a22d94500a6a CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9afee18-44b2-407f-908d-c83de97ffde2 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b525edba-988a-477d-9bf3-3000618a1686 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2189dc-2272-49f8-b9fe-616f17e15a18 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50ab0c33-c9dc-4655-a3bc-6502d3ed711e CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43de8997-b1b3-433d-869c-22accbed7d15 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9189a55b-349b-46bd-8515-f038aa82dda4 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c57d01-1820-4d10-be43-6e323a66d360 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ae4ddef-3596-4bd0-a58d-e210d81190ea CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8684ba-4cf3-4873-9207-30aee5dad6bc CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f73a1200-5298-4c9c-8e55-6d35d49421ff CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc151c79-834a-4499-9365-3feb1e066580 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1930a65-0ff6-4f2b-9d62-84ecdf4bf57d CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88c3467-b34e-45f7-842a-042921c7419d CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2739fc87-e95f-4b26-a2a2-3b2319725a4b CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fe68ec-6dee-40ce-9b9f-257fccb0753c CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b14c4f3-876f-41fd-be99-5c322415196e CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7fe2b0-9b22-4aa3-8e9f-3eda73855afc CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08ea9ec5-834b-4c36-9725-d30b3515b936 CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2991eeda-0de6-47c1-b631-0806c47e8eb6 CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfc58843-a9a2-415f-a206-4bd1f99762ae CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4018b6f4-386d-4851-a2b2-1bce44e07949 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96044d83-ce91-4507-9093-3c7e6268fc57 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589d7159-ad24-490d-b118-ccb8e0812ea1 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dcf027e-3d66-4a3d-85d1-6f016c51cf15 CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635c8feb-f9d5-4772-ad93-9c4e023411b2 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c619cacb-46f5-4f5f-b1a4-77919e3fb681 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1953fd8b-4d00-497a-9c6e-4e065b5ac6f3 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83914a4d-90af-4e98-a954-57c200d54249 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5daada-9810-4b69-8b4e-04bfc98d087e CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 203d8d24-f61a-4d28-aab0-adad0dfbd220 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f19db6-8c19-4b8f-ab67-d39ec3aabb3a CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26e1ce25-fbb2-420d-a6f8-957b6d2b5ca1 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e413b2-87d4-4264-a555-36d1772596aa CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 471ae631-057e-4ef3-b932-27f9e0008751 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f674644-a10b-4ffe-bd27-7ba22e06abb7 CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e07aa016-772e-49e1-bd6a-830623901efd CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cb3518-e4cd-4039-be0b-155af67abb44 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 023d5885-698b-48b1-a062-701a4ffd94ac CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de974ea-3391-4d9e-8c45-4f653d64b7d2 CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 693c5cd7-4345-41b4-846f-9ab1c4c95cc6 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf48224-0c0d-48e1-86f7-102c2b959cf0 CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24a9946a-c97d-4183-9c3e-c645b6fef5ec CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c485107b-0b32-4d8d-aba7-c73742a05963 CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2df22d04-16aa-4272-8abe-47bcbbbc2a24 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900486b5-91e8-41bd-8977-ab909a234344 CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de2c00b5-ac14-445f-9cfd-f710bf279035 CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16ccb7d-8778-49ef-94e9-b6474b9a9542 CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dc547b7-5753-48c4-8710-64c109899e6e CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bac6f65-6307-4a12-99f3-2a1c43842061 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb7aa0af-49a0-4841-a285-cf341bb514a8 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f8ed68-6863-4d33-9a60-7dff20d01782 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73ac09f9-7ab3-4a8f-a1e7-0316c058bd76 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8d2f9c-cb83-450a-b048-9eba5d30fc68 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0977dfcf-6609-4284-8fa3-56ffd1fb77a7 CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c72123-61da-467e-8001-bf80ac9ad384 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 010cc049-1634-48ce-93a9-b7e09643ada8 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df9195e-1d8e-468d-a467-860f901c93a2 CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f53bc53-b2f9-4a61-b5ee-37cba7aff696 CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95acc66d-9a0c-4c70-9561-2062b6efaf56 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddae9485-94ab-4236-aadd-d54d53d8d821 CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4d8137-98d9-4e3f-9fbf-fdb7d6d59dba CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32aba42a-9fa6-4985-9053-95a553fa5f98 CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c38ac9-e889-495c-9e4a-697208ae8ac4 CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c9401b3-2ad6-4006-b9bc-5d2f598f2135 CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15beb8c-0db9-45a9-abef-b9130b84c5ba CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8186bb0d-5e99-465b-9aa8-ce65b02a22fe CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6a5cce-008c-45cb-8860-8a810d1f9da6 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb011b0c-b7f2-4b60-951a-5cbfbb58ad39 CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f809ceb0-3181-4d67-9ec8-d1d7789a163d CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fa01450-d4de-44f2-aee1-4bc11dd2edbe CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19db1990-34e2-49fb-a533-19d07a5afd13 CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 878eec00-da58-4785-a914-34a135a0cbd2 CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71cbfe8a-d72f-4eea-8026-a9f82d154d10 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcb25807-63ce-42ed-9472-021a895b4272 CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e33a3e3-5eed-4505-9c54-f74ee9734776 CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30bc2da6-baaa-4367-b745-c2f6764b99a0 CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cefb67d-70aa-41a1-9b4f-f53e35fedc2e CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490321e9-e214-43c8-a613-d279daffb8d4 CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3edb000-6e73-4224-8053-1b72d40f9dfa CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372a93ab-daf2-4e34-9996-06d3c049c616 CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe61594a-f8f7-43c5-86db-17d4d4663d7c CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c4413b-4074-402f-b7c1-120ecddf8dab CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89212cb5-3280-4b88-a5be-01ac13d6b3a5 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29db5612-882a-4e24-9d67-ce7d84970e35 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edec943b-cdbe-4e30-b5b0-d5e8ed158d7f CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382e9885-b87f-49cd-9796-3eb5c814cebb CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ce66c70-68d0-4d47-aab1-eda052df90b1 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08789411-e316-4889-baa4-43d1ef24adc1 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15fa76dd-0865-4f1a-aad3-9cb5517a9ce9 CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bf9a83-ec7b-4d4e-92c5-3478e89223cc CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca3c65ea-6598-4392-9922-3ddfd29c5ee7 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ca88df-2da3-44ca-afb9-9cdaa3c8fdab CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e15907c5-900c-4cb6-b472-959bfcd481b9 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c861d9-4021-4246-82f2-834596855d6d CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cb3a057-3971-4371-a5c5-9cdf59979682 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a8f862-8295-42ee-8629-b7369d313f80 CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3390711-0a3f-49c5-b015-31bdbd1da6aa CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5282e9-cbb0-42a5-b21b-954ec54f9c1d CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11526897-367c-4dc8-be26-063501f6d769 CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a4589e-bde9-4f4a-9d6a-0475c96dd1f3 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f018afb-9ab3-49b4-ae57-f4331ff9fd79 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c612ca1e-5917-49d1-8509-fd9a5a04249a CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2e9d9aa-0d03-4e4f-a55a-3d94bc58d4f5 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231995a9-8ca3-479f-8516-712d6c255bec CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64c0b16d-05e6-46a4-b4b0-4ab7ed796d37 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd1b6d9-a182-4d72-9951-93d9977ca45d CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c4298a2-49de-498f-b15d-c59108137361 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4f3e03-c09b-472c-8398-6650ca3cdc64 CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49a3c578-dd75-46cf-9e6b-3777e8e3d5bf CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a5af31-f515-46fd-89da-db9f0920e95c CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fe8dcfb-78e6-4e9f-bab2-abb5189e4472 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54d1132-0fb3-489f-ad1b-ce21c3b5eef4 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7569d8d-2aba-4c96-9abb-b2b878d25fe1 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92bf2108-9e2f-4cb4-ad51-7052a8c6b828 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0828ed3c-274d-44dc-ba96-d4421e01fc68 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae75e4f2-5485-4e6a-ae38-ae4d02635bde CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d17fbc86-f941-483e-83d7-e71fae039d85 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2696edc1-bb0e-416e-b323-b12d6be4b1fc CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0d01fdd-161e-4fa8-a620-f7cf4772e017 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518a5912-33d3-4c92-a1ae-30d9d9200eeb CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b941c75-3497-40d7-bed7-7144066ba8a4 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f63542-a10b-41af-95a9-7f2280339025 CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f05cbc2e-7b9c-4e4e-a41d-07a7c9cb0813 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa239c15-681a-4257-87ad-d5e9bf80e41b CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b98232f4-e974-48f5-afec-a88234e307da CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703783b5-0ff2-4019-8e80-b25ecd021cc7 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f25aeec-6031-4e46-af79-b4ac60ab9e47 CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609690a9-0a43-49c9-b0d0-c9f18a4cc67f CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec928a28-4123-41f6-89e4-e23f864f01ec CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f937c3-a26e-4d2d-8450-fb36cf6a8ab3 CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f43690f-f5f3-4f09-a063-bac7a82f3c59 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f1bc83-e950-46c5-813b-43e5f61d7b86 CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3ab866c-c877-4495-bf8b-6656881e2583 CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07ed884-e911-423c-8cde-4baeffa3a0ab CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abd641ee-a87c-4038-8b92-ef09cf619e4e CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1feaa538-85a9-4d5b-a105-9a7fa1bbe135 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23cc9aa2-b4de-4a48-b995-37cd4266b290 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c9aa68-b475-4f63-9fe5-7ded0cac6ce6 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73503d1d-12f1-4ab1-9ce3-c1f603b602f3 CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777f86a7-7775-42a8-b068-e865fd4ce404 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c944f8c-cf15-4d77-ab06-9ce4b0d36be4 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a419df91-d544-4614-a2fe-054633129715 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9495eba-3401-4c56-ac6b-926819c5499e CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1acb13e-ea41-4eae-8d6f-0dd493b38156 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen affc41e4-370a-4814-9548-c20f06fe1956 CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6faad5-b412-4c2c-8f10-e7b977b1424c CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa9027b0-cca1-4259-a637-574533cd8db0 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ba60ab-2922-4c85-8bbd-3b2048289a74 CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 838b35ad-e8c9-4e7c-b3a8-7b7aa1955604 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b549561-c001-4f89-9e10-ad37ccce20c6 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae88ce53-0438-412d-ab4b-e68a5071a337 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed118767-88b2-4997-a48b-c27242583b61 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eae9410d-a6af-43ad-9668-99f53736cd8d CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62a6cb5-ea7f-43e0-bd54-fe18f2abf896 CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b13e150-bd7b-4c2c-ae0a-b543f536fd85 CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbd3b77-124d-41f2-b214-89f18a9c99a3 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c472d49b-1e7a-4f8d-889a-358d7da35884 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cdb07e7-5e13-42ac-af66-e1049a24dc7e CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7f29d07-a6b2-44f3-951b-3d6fe8e62c52 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022a339d-adbd-485c-8a94-322b10720b7b CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2fbef7a-b52d-4cfd-ba6a-31b9b3792584 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34951bc6-9fdb-4d28-a307-876df45dfb29 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f98f2b6-1867-4761-8d30-c7b3dd16dcd7 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd596626-4f7f-4290-904c-ca4f72e4d02c CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aacac753-f527-4e95-9997-eebdf26c09e5 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdbf5d6-e42f-4bcd-8d4e-f31f88cea1c2 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94716163-fb56-4919-957b-28bebc785b4a CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1575b40-70f1-4ed6-981f-6f2a64c13a48 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 681d92ed-1b45-416a-b011-429185a9d0f4 CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c666fa84-602c-44f7-8e45-9f88804edd17 CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4783b5af-0a9c-46ce-873f-c3d0d6ef0ad4 CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91dbcc59-b39d-413c-9646-47da7e0a0554 CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89e16c9c-7107-4966-bf69-57bd0aa09ce5 CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b85321-3695-4f51-81f9-ecfeece84601 CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cea0c13-cc49-4517-8560-2099da2a645c CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c522d073-8f67-47f9-91d6-2e7d5ab52cfb CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd92f13d-16d3-442e-ad5c-e5166710810f CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d04cdf-f5a3-4049-88aa-468ebb19f649 CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f47745e9-86ff-4511-8941-69c39ee2424e CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40842367-9dbb-4de3-a42f-10e60dae5b38 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ea3f30e-4e83-4b6c-a4be-a576b872afc9 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef33485-5a8d-487a-bfb6-d30dd7a87689 CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 062344cc-cd74-44b5-a696-2c2530be9ae0 CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b964d39-cccd-493c-92d8-d27c25687941 CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8f95e18-32b6-4ad5-bd4d-a7a2090fbcd8 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97573216-7216-4761-9492-cd3590bf8617 CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19f401ef-dd90-4272-95df-09881c3bf7cb CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02d5027-b13d-4dfa-9220-018e9bd2af6c CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7c2d365-4a23-4b2e-828d-def28ac193cb CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13c0569-e77a-4fb1-a088-34c20129e6a4 CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4a19720-4940-4af1-82a6-3e414b0cd020 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58083c28-f84b-42c2-a1b9-caf9e84ffffe CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fa3eef0-1f43-4adf-a0d0-e354f1a9cd63 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8262d976-7159-4b4b-981c-b503fb8db523 CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d48fd75e-98fe-462d-8cdd-e59a63a0bc64 CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b370c5-155a-4a98-989a-5f9be82f0b41 CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e6149ba-f966-4230-8fcd-40a062eeb890 CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0955b3-2093-403c-9dc9-82b540a99b64 CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92e8feef-8bbf-42e0-9a62-bcb1eb752594 CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cd81f6-4567-4404-b670-651ab53f29c7 CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c5249c3-aa8f-44af-bb10-1cac8558e431 CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2878820a-b92a-4c03-8e7c-56ac00e41836 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b53dd5e8-2954-48f3-8bc3-1159245271a8 CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc07869-733c-4b1f-b23a-7217f05feb13 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3315c44d-5e79-4212-abe8-0d75695541a2 CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6939754-357a-40c5-b093-a27332553298 CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27aa6043-459a-4f15-84ba-3f102ccb2c64 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da729272-bcf7-4aa2-b641-de06d326271b CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bfc51e9-9ea9-4e72-aaa7-15b16c05f473 CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5882402-cc3e-4183-a979-ea68cef2ffc4 CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2192dc3b-fe3d-4b94-955d-5ecdb083f7af CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a14250-3ec6-477a-be67-98352179a7b2 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c145f431-3848-4840-a78d-c3d69476bf77 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44299e46-a619-4b73-b6ff-086c64c32c8b CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b3745ea-ed0b-467a-8bbc-2f858a6c9c5e CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48407568-db15-4e6b-a2b1-799ae1a6cb00 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c20ee3a-8f56-41b7-b128-e28f2fad9b11 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f672a2-d16d-4c82-b91b-30c4025af503 CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8fb49df-4f6f-4b78-8bbc-31c0701fb53a CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75960bd-5be9-403b-a8e5-06727ffa1ddb CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44525155-0a28-4e19-a5c6-62c964a92f5b CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b042408-6091-4d05-9490-1c3c7643eba1 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b34111b4-fb6a-44f0-9f29-d1261c88f581 CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb994299-ebe5-44c1-91b4-5f787fa5d3ff CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13979951-3920-4301-86c9-0e49df860531 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c92490-c0ba-4f71-8733-dfb527715b30 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61c91025-0882-4b4c-8f76-2e88cf7884ff CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60874f91-297f-45ff-8fa6-0855e3532e44 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30c94759-2ce8-49a6-8b1d-829132a148cf CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8dc205-8e70-407d-80d4-9f11a82106d0 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29e7b2c5-1a2b-4ee8-aa61-6507e7a66b07 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433f9a54-472c-40ff-ba4a-948df8cdeedd CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7923d146-3ecc-4015-9f6b-246d53fce217 CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3597e96-bc2f-4589-bc87-0af3def9cec0 CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb980d6a-c88d-445b-99f7-c8c4602cca28 CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d709e51-32a9-4af0-aca2-072c955f9f98 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 236c8029-3ff3-4b21-8cf4-11a839171b8a CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153d1986-8200-42f4-9dfd-4ff1950d4e04 CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2a332f5-ee62-4fad-bb8a-04b1a8a96821 CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f2e07c0-28e4-4cd0-ad5a-97e6e36e0fc6 CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 173e20fb-8ba5-4c44-a711-cfdbf500eb8b CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13586bdb-b886-48ca-8d25-eb990bc4021d CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ac1d6f4-3cac-42cc-b9fc-47183044a412 CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 124b17bb-5cb6-4bf4-a89b-7b91316121b5 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a10fbd4-c562-4acf-954d-310722b9930e CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4458a0a7-51e4-40a6-a079-e532844269ad CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 173bf675-ed8b-4073-a590-d97424241b22 CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a7d002-9306-4667-8d99-b3e36fdb9d5d CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a4d6f09-c39b-4e71-9aad-048997f0e0cc CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deea383e-0469-4c50-9013-5d741c1b4ce6 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8764ab45-d07a-4fae-86ae-14dfb0a66b44 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5abb6c2-9a3d-46bb-a094-ceb2b2dc2942 CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 753a1261-7649-4a6d-9be5-a95645eec6b1 CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6e93cf-ebcf-4b46-827d-dc740bb23fe4 CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34ea76c5-bd25-4044-a8f5-cf3682609224 CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0724ad16-06b1-4934-84a2-75b3e79827b4 CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87062155-5d87-4951-80f1-e4e3ab5d02c2 CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcde752-6a88-401c-bebb-16d4944fc037 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fafdfff-2f2d-4716-b51c-07bdc9f92cf6 CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1f3270-8cea-4982-a6fc-1b9e7e14e08d CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81044161-1976-4643-8a55-85549285c769 CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41db8766-5775-4baa-9af9-38dc3fa77591 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen becd7864-3d80-4dde-beb5-25b0318321c0 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f5134c5-e52e-4b21-a47e-45cb66812eaa CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 937b7380-3c9d-4546-8a6b-484d262018e1 CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6563ff3-d9a5-47f7-9a2b-87a8e28fd021 CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69c8e5aa-2e5c-4b8a-9e05-78bf6834f16b CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86351378-df2c-4641-83be-12b90a3db967 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b69d9df6-2c0e-4f73-993d-5548f7723c59 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45e12ba-49fd-40d5-af53-001ab7b7c4e8 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6ec77a6-e313-4d02-a08a-5e4981756de1 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b46644-5f75-4d61-81fa-e5046aadcf62 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c7c1060-ebad-4e14-80df-3671965f70cc CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976a1dd5-4d85-4029-8358-89c84b67f8fe CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36d8acef-a37b-465b-9dbe-9f5770d045d7 CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d279c8-249e-4fef-83af-e12363a78776 CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eaae8e5f-755b-43bc-a916-54d98a130d51 CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27860dd9-f0bd-44b4-a193-2ef79e83da98 CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fae9fd41-c34d-4eaa-861e-94358ca5533b CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4d121a-4ea0-4323-a109-7f5e56f7998b CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23293a60-5155-4eef-85c7-77321a86a2c2 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16bc577-6cf2-4d7a-8194-fbb62361a7c0 CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 860b0a67-ec9b-4b86-b79a-5c3d40f61fc1 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08e5882-fa72-40ca-8062-89b1799fa373 CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0473785b-873f-4171-878a-59c4a435db87 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09568511-f801-4cf0-a2b0-2263154e74d9 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 004dc9ba-550d-4dfb-a31f-072ad3d33343 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0205f13-10d1-4136-8e98-192ca23e19f2 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 715b96da-fabc-40bb-9c63-5e7560eb0e73 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc69025-c176-496c-b937-49e59dd215d7 CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ad7722a-a8c8-4dc4-81fd-e61db93a79bc CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10de5118-9b77-424b-8dbb-0df1989e613f CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7eb4a05-a7c6-40e6-9704-eebbb25c2d56 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2f525b-62e3-48d0-b1b4-504772eec947 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb461d0c-6ae8-42cf-ad46-cbc7f2b0fbc1 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f0395d-7e3c-4c7d-b0c3-4c594e9f7843 CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 617ea343-4c74-457f-99f2-b53ffa9f31f9 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38456ed0-c908-4467-8b97-e90ca3cdd966 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6edbeb26-851c-4869-a1dc-5c433c02cf44 CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0272e4-7239-4b46-a42a-3786b7f52877 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a46068d-42fa-4700-adce-aa57235af9e1 CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea487142-7554-4510-bd62-b19fe7aa9b1f CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2db77eab-b0c4-4723-af86-42c0480cd417 CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914abc44-2e78-4985-8c53-fb957d858753 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2c058e0-07b0-4ec4-b555-ec3b2c258a6d CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afda55c1-443e-44af-a0ed-b37aca064bc9 CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd1b6967-fd1e-4538-af7e-8c0c99f7927a CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cc092e-c6e5-4b56-8b9d-942fa955cd45 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f9aa59e-83c2-4f1e-b149-629653cde6e9 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ba5517-e16b-4ac7-b5c0-67af31c9e1ca CLINVAR:1327615 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86726192-4474-403e-9cc8-316033680265 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873edc1f-6e8c-47ce-be63-c4ecc34531b3 CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c8703b0-de17-4b7e-90d8-80eb7ef9a6a5 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bafa58b9-e081-42d2-9944-27bcac9544fd CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76dfbac7-51f4-4cf8-bccb-5d633e3e245e CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c5c265-08a9-4e28-aa49-baa3a72a885e CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 931c9b55-dd91-4822-bf2e-05ffbb64895c CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00510f07-83ff-455f-a0c4-7e3fdf9fa7fa CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f47a347-e05a-4a35-b1d4-313af42ca031 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf4a496-d9cd-478e-aa7a-e2ff51c99618 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24f76bbd-6750-41f0-9809-5b002743356c CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d5dd21-cfa7-475e-8c67-5674cf9f9af4 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f485557-224a-4fc0-bf30-2391a28f2431 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e80e9c6-37cd-4b10-a27c-dd13bce69c86 CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21156433-f4db-4011-afae-dbc32e5125df CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e928eb25-134f-4215-b149-d2f7fb5d2aec CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1087d268-2387-42f4-bb8a-89d1ce9be6ab CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a89503b-914f-4f0b-9006-c2978a6a318e CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21388f62-ed4e-4708-a7a4-bb16287a568a CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d3278b-258e-4e02-bcd2-3ed5c1c9a0c4 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be71884c-2eb4-446b-b5ba-0782dbe8830c CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a26a17-353e-4c6d-a62f-05e7e53d71a6 CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f17ff7a1-3a0a-4ec2-b8c0-93ac50d35dc4 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc42a8b-c88d-4681-b4e0-a5d5d2be055c CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5d79ca6-92a6-4d38-90f1-35e7b5e8f117 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdf6695-def1-4260-9e1a-33fc9483ebd3 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7fdcf0d-8b94-42ee-ace1-51d0af6e59e6 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ded5d08-852c-4644-b5ea-ea8b5f447bb5 CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ba8f84b-ffe2-447f-a848-2ab8b3261019 CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2697b575-7a5f-4169-b495-17bd96c66233 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbd83b43-af58-41c6-81dc-6d49e0cc9de8 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602c582a-94bb-4204-a4c2-551377f56138 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60813f8b-3b04-466f-80eb-fd94b798c809 CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db323a29-24c7-4b82-9945-f2603d5398ec CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab00b221-f4f9-4322-afa7-19d4bb6af9da CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1307bd3d-ffa4-494e-abf8-0af2a8135935 CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4130485e-bf00-469e-ac8c-b8bc446e7d05 CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb6dbee-6263-4da8-a021-ba99250c25d7 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c450359b-f84f-427f-b1af-86285e91dae3 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6362d1-7ff0-47bd-824f-ad6b69a6c386 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 891f5138-438c-4a94-ba38-ec74ae0e05ba CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6379505c-567d-4163-bdfa-bd4210157750 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5743659-36af-4b2a-8f2c-d2bfd6a794e3 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8840ee9-e54c-4f9e-9018-212aaff2d98c CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b13dc20-5422-47b8-982a-1eb883de287a CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2c92d7-1b5d-4ebb-92dc-1b850c573b6e CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc27ed29-48f4-4ba3-ad26-77028b3fe4bf CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793c4998-61ce-46d9-a31c-72c83fb7b44c CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 368e4605-f0d4-4817-b22e-7b674c619eee CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549bb688-d238-4109-87b3-6d1614d01f4e CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 488974bc-f482-463f-832b-c7c085022bf9 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea826b89-5036-4d09-8d98-016ab25cea12 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99a4b5d2-63e1-4bd7-9d15-88aeec3a8356 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb9e168-2521-4759-a067-42683db4c320 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a502ccda-ce0d-407d-92f4-28348e908f08 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b524364-3be6-41cd-a5a6-74feaeae316f CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f10a9e73-abbb-427a-9e5f-02bf899b04d3 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a67459c-7f70-4a93-bfca-9cd5191939fe CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53143690-be1e-4728-83c7-9ca543d049da CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd60f79-892f-4d49-b850-70e88f981c60 CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1585e162-c892-4323-8c4e-8bce5e5dccac CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783d854d-5419-4d93-8ab3-df5afe0a807a CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ef12db-643e-47fe-b5f9-227b039c6bd4 CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e99d78d4-eb4f-4ddb-b9bb-164e08bbf087 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b5e6afa-f2e3-4e30-b3de-528676c53847 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c2175b-7fd9-4a5b-a11a-320345dd1883 CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fda9b0f5-9b2a-4047-b161-c83206f4ae53 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6008edc-50d7-4140-a31f-c1c82e5ea60b CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad15b613-a021-4563-b6b9-4fd031964af8 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ed5e5b-cd4c-429f-95f7-df78afcf7591 CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fdc6b86-bb53-4bde-abca-f43b4fb4832c CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e210e6-b7c7-4982-8fef-ef42893d6b84 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70ee35ad-babd-4161-be3a-439d98659572 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5442cf-8cee-4d3d-8372-67fc17725d5a CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3700c9ea-8745-4af9-9236-e1f5686d8a53 CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e121e6-a6ef-4713-8183-a0a06f3e6bd3 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d3207ac-422c-4e1f-b975-1a6329f9382d CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6fea67c-9d3a-43ef-a5d5-027922c7323c CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2beb4325-69b8-4817-b55d-2a5599cbaedc CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3070a9-f931-489b-9b14-71b608747ee7 CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78cee225-cce4-484b-b5d3-54197e88726f CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dccfe95-14c3-4eb0-9761-154c31e8e0c3 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2af0c682-a8e8-4f99-bed8-47a1b1d56f24 CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d002536d-7ee9-40f8-9c41-b651cda4bd92 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfd4e493-92ee-4a61-864c-6de65533b264 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3d7cc4-34f0-4419-b668-c295afcbc4a1 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a434132-377f-4dab-be53-51ff56502038 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebe8916-d058-4823-97e3-19aef8d34b95 CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00cfbbd8-7ed9-4fdf-9f8b-620d1db6f976 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67eafea5-4e79-4305-965b-9707522ff428 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a033359-b0ac-40af-b2c7-c851b8937a16 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6d6de2-f62d-4601-9601-f3e657d0d673 CLINVAR:133219 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffd86475-edd0-4733-b461-ba6a1dcf3c51 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d350d7-24b3-4ed5-82a6-64b756e38839 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a179047b-7070-4312-8c27-a4b2174a8905 CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70757a51-5855-407b-a49c-fe5ccae5e3bd CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cbeaded-ee5b-4de9-9fa3-0f9942940bbd CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6eaceb-c7ed-4f63-a3d0-e1951dd2ca9d CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 810a1841-5c05-4d87-92bc-7dc4db857cd3 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd449595-6f46-4a9c-9835-d856edff4eec CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17555665-2cd7-45cb-8379-6e73073ed044 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15506be6-9e80-46d4-80de-cdaf8562c6d1 CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48ae9f6c-3708-4592-91d9-41eb2e383d37 CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbaeac2b-cbe4-4474-ac38-0ac7f0cc32ca CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee1a37f0-fd39-4eea-8d16-9153bfe90e44 CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78499fa3-3358-4248-a659-f2c5fe83f299 CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12977141-020d-45e0-ac13-bb08e25d61f3 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6577d3c-6143-4cf7-964d-2c4303056880 CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dda71c1-33d8-42da-954b-699ad2cb8dd1 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01d1dd0-e249-4283-abcf-57223894222d CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9613d834-f65f-4d07-a6e1-0ebf6c6d63df CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c132b494-8a4c-4e66-9211-35ebaaf180b6 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4d3c482-bf10-4f3f-bbb9-2a4e82f27191 CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88eec26-c2d1-4f95-bef6-a04d3683d95f CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35b1fc46-2447-45f3-b2fa-41e572c6c68e CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900b4f75-f38e-4bf8-b8d1-0697857bc65a CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96ab9c4e-b179-454c-afb3-9d739f8e9805 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f717e08f-09ac-4b37-846d-847dd94b7236 CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bdbf015-98e9-44d4-ae79-7366ba67df1d CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db08bcbf-fcf4-49fb-a7ea-bbe4fece9edc CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc31432f-aa7c-448a-bea6-50a4dd54f596 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54cfebf-84de-4923-a732-9b03fc32e8a1 CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c128055-70e9-4b41-8260-520f05e27430 CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92c955a-d37f-4002-a7b4-0f8659be68b8 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3de0cbc3-310b-448a-8d21-fd989b121a9a CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5654bf-743c-42f5-9f5b-33d06542814a CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5f73a08-79c9-40ab-9217-cbc429bb7aa7 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c125a29-c012-424d-8ead-60c663bfd5ca CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56ebd98f-48f4-4660-8a0d-303494e074de CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3feaada4-c2a8-4ba1-84a3-9ec943bd6217 CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c581353-9637-4449-a2f5-6a1480da8ddd CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1832c5-cfde-4c9c-b419-c3dc8d4eda54 CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da7ba012-02b7-44ae-84b1-d8a605a495ad CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1fc880-5470-4001-93ca-2d681059cebf CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed87fc84-ce91-4d78-b901-8f4a8b14e93b CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112c7a53-996a-422f-a9c2-9eda5112ecbb CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3830cf4-4e2b-4fe1-a787-8fe2e3237c59 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c877918-88a9-4bcf-98ef-914fbd671b2f CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cef69f9-42bf-473e-85f5-3de43cc3a3de CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021c9bbf-9cb6-42ae-a180-b79132f63aec CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cac9dee-605f-480c-96b8-08d23c274cce CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39acbbb-a84e-4773-ba00-309d5aefab71 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 886a8fe8-1f81-4c6e-af32-dbaaa33570a5 CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fb3584-7f40-4ea6-9153-1b991d142016 CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a8dffed-a8e9-4998-947a-9c7e4c4282f9 CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1faa70-d8cb-4d0e-b16a-3f622e13633c CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9149b488-3f7e-4f72-84e5-ecd1588cd08b CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1efd35f-69e4-4e08-b20a-6a364ff114f0 CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39064176-1390-40e3-acf1-d1185331fd65 CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2077378-0af5-40a6-9208-455cb9209fe3 CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52982664-67c5-423f-acde-653b977cb8df CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb7dd21-7343-4272-901f-0f46534148e0 CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76390460-0806-4a0a-92b0-1171b4f21155 CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3249cb02-4211-4d1f-9d00-1a57d114b9b5 CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7e47200-6f25-431a-af5c-2b66376f7c1e CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98112c1-7359-4598-afde-698101394a6f CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e7d0e39-7451-4a0f-b0aa-3d5f048d8d73 CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6faf6f96-3c80-4c7d-92cb-4e0421e2b8e5 CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfd106fc-a7c7-414d-a620-35a2ac503c8c CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96006f0-141e-4cbe-af97-6a8d8ca5ecf9 CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d3d5f8b-b131-43c4-869e-5e44df774a99 CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47ad49c-70d7-472d-8b81-5218a3559f2b CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e935318-735d-4e33-9d22-b3e45e686c6e CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fcf04e-4959-460b-b798-30d6e5281eea CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59a24288-413e-4171-8d11-77e33235afa1 CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4430ae58-53c2-4406-947b-09a317ed44a9 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17a6b36e-524f-4152-b261-4ff8ed397d60 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633a3171-013b-415c-b27b-8264c58c6a42 CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e76cdcaa-3b36-46dc-8cb2-2ef4f61097e2 CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f016d21-aac8-4dd9-98e8-f3f953f27165 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf67af34-aa08-40e3-b578-ee04089af82c CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967f7538-3cc5-4b82-b873-c844809897a5 CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05686bd1-bc15-43b8-a871-961199c4ff5b CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32efca5-3e73-40a0-9135-cce0ec9dc231 CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5239cfa-9716-4f2c-a005-872ca63c713e CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6002722d-2d3d-4fdf-b19d-7cf18a61ef7f CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a04f79fa-5fc9-4895-b859-7bc2a22e4b7a CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f4c9c3-49fb-4232-98ad-5a7697a87850 CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea7a1a80-8820-47da-8379-1f6b43b4b29b CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c73b45-0fa3-471f-9b9c-327998a87000 CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca30cdf1-3a43-47fe-b473-87734595c167 CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282505b8-ee48-4151-ac8f-e1062571e5ef CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8f6b858-fbc0-4e46-822b-e214285daf47 CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398a2914-356f-4ea8-a441-f9e7cf5164c8 CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 327bda2c-487c-4929-8e46-5ca8351d0e33 CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182148d9-4c42-4aea-b454-83a2347632fc CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a25b8a5-8fa2-49a5-a5ff-80357f9af796 CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f93d187-681b-4e15-9ba4-880312691ebc CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea35ee8b-0bbc-454f-b1df-f5709d1b677c CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ba82b7-3a5b-4763-9ed3-7690698a98ee CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dda9846-619f-45f7-b77b-cd8be19b3c5d CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab1fbf3-22a6-4658-89db-f7a4faa9eafa CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9e7c6d4-c83a-4531-b40d-9f9e690d4b81 CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f533bc-b352-415e-ac0f-0b53e1d1917c CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 230de62b-328e-4e20-98bc-e492a18ef3ec CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea8cce2-7b7a-4bc7-9fbd-ed74774eb963 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1470514d-9f04-4912-a90c-a491e88b05a5 CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce18773-0041-49c4-98ec-8ea743154f03 CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e6c29a8-3b1a-40fa-923d-6ee816e9f170 CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910e6da0-1f4c-4d18-aee8-e563adb78815 CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74995701-31f8-42bf-98fc-08316a074996 CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac61f54-8706-4711-afc3-79a9e2b92127 CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1166deb-555d-4d0b-96a0-caa2144d9176 CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ab4d63-3a15-4cd4-b1bc-8f3622113299 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92c11a9c-c26c-4e26-abfc-04fca55779db CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a695385e-6cc7-43c8-9ebf-d24da09d8dd0 CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cd0bec0-b54d-4dcc-b1f0-ac4ebe1ca323 CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f4bcb5-8c45-45a1-aa7b-6bf609da9ed1 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b77b4187-b7ef-4ae7-9204-643dc6a17176 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75cbdfe-faac-4f7c-bf73-4f7642dba062 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7df61a8a-eaa1-46ec-ab4c-0eb15968dfc7 CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d646965-c465-4977-b06e-818440eae700 CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c571e52-8d65-4b6d-ac8d-560c8a552ca2 CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658f744a-21e3-4a44-97fb-6d042d1e96c5 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d483cc6-6688-44b3-90e2-0c6adb9f7502 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7886b2a-7c78-4d59-8550-6d0c3b6796d9 CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33284aba-0abc-4995-8c99-d7e43ab255d4 CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c773b7-f0e4-424f-a07f-3c1b40060f43 CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad57ef43-551c-4752-be2f-eb419a78b1f8 CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81a3fa8-45b0-4dc7-bbba-c2df504973a4 CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92062ff2-1531-4c0c-9a8f-e4276b147fbf CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a466d7-a5d5-433f-b59f-83d8b34bfabf CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c1ada82-5bb5-4d0c-b284-73c1116a50fa CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2cc36d-386f-4aee-a930-1391f403ef1a CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e64a2ae0-406b-48cf-8aef-f37834cd33dc CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4e752f-96ee-4b0c-a743-711196a717fd CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db58309e-44ed-44c5-9311-a9f6c8486d0c CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8719f42-6add-47ae-8512-250ac97e7451 CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c77f9da-bad5-4e5b-bf40-046e2536682e CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded3b93c-d442-47dd-b383-bf2f255eb846 CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9d8f318-846f-4f04-8f09-61d06f5b4585 CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad80debb-aa08-47e3-acc7-11ba50536ffa CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4d8703d-75b6-497d-9b86-5955152735bf CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525b1cd8-9ea5-42a9-a1ab-406c4cf8523f CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a8bb6b8-0e10-4cf2-a115-443e91fa364a CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53c876c-24bd-41ae-94a1-add47499931a CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01c0fa4e-9b68-4a5e-acd2-8439bdb4d5b0 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7843af-9ce5-4384-b3b5-18ed2d9d2e6b CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29f06bce-e14a-4c03-b794-5150220b355b CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68be45b1-fe0f-4a20-97c1-7798ef984678 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f60ba08-01bd-4cb0-a900-3cfe6bc8fa47 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deae004-7a90-477c-bc8e-7aa9d6ede57b CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cbb46d1-c06f-4494-9228-029f5554cf7a CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 899165fb-8149-4e45-b2dc-042b40b54655 CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e815bb1-3798-4ef9-8605-860d93999852 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d244f738-def1-4fce-945c-5577539c994e CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7c38c36-95d0-4711-89e0-fb2a939721ab CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e356f5-0d0c-46a0-92ca-9412ea0c8457 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f12b0c0-7cf7-4c9e-8e0c-76adfc653a68 CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3c7a97-d1ec-4057-9583-e7c9d9dd1cfd CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 078feec2-93fb-4545-afbb-7a7a5358c61f CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b9dec8-0102-4507-8a1f-bd8b062c6b22 CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3094779-f215-4dcc-a8c1-1f284c10339d CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2065b97-3f86-4c2c-a473-1d05b7109ea2 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb411dc1-b3ca-40a2-b257-23d05be9a5e2 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b7a854-68b7-4451-b27d-720f6a66c70e CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 986457af-e6bb-4c27-8841-e143fbfd6f4d CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77558ae-7c56-4d33-9a58-12fb631abf79 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b52e30cf-c9c9-4b8c-abd6-f04cf2445ad9 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e66842-cf7f-4439-a97d-ae94f18f5336 CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e3a11e-28eb-4600-bcfe-2161b5a4ef41 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dc6820-bb78-4601-9dc8-c3ec1ccd8173 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cc99694-ee29-47f2-a02a-0d23d3fb8098 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99aff6f-a57e-4fa3-abbb-1112bf97bd12 CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71c8a1b6-71e1-43b6-8bd9-ed0cfec1524d CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40564b6-17b2-44ac-86c9-4c75058d3ad0 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bec6221-8630-4ce1-837c-bc9642a52da1 CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7da336a-6126-4b9b-8dda-b250938a96b7 CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e13e26c-98c8-4c9c-985a-3701d81c36b1 CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8ba5e5-6a51-4fe0-a90c-f47aae06b3c2 CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8de50982-9e4b-4ad3-a781-7dd5a2bd6c87 CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbeb012-9c5f-4c9a-9524-4df1b4ed7ca7 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21abe50f-6a58-4c36-975c-37b75860e68b CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e017f632-54bc-450e-bdf3-1066086d0d22 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72c1dc6f-f70b-4e51-837f-e5cbd5d9d5ed CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbf6343-5e0d-4ce0-a26e-7a7023c4b01c CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79bb8225-103e-4d5d-b27e-241b63dc3e40 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62aa0094-c55e-4b2d-bdb1-941ac32f072b CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35a1812a-44a6-47a2-af66-c0e757527751 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea49415-2911-4a2e-849c-310e765d71fb CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84f44899-336c-440b-bedf-fcfdf9b4a849 CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d379e7d-eb7e-4418-be83-5726ba1698e0 CAID:CA386965448 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 249044fb-b3b9-44fa-9e4f-ca4673faf910 CAID:CA386965448 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1adfaab-b0ad-44e6-b52a-c05d1a02d826 CAID:CA386965434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6eca851-48b3-44c0-9d4a-25a06cf358ac CAID:CA386965434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd75c6d6-5831-40f0-9c88-6b6b0b72f56b CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d217681-235d-4456-bb5a-b949a2f6de1c CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508e0492-61b2-4e28-a1b3-b5f6180ad59f CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acdc7b8e-c856-4461-9d08-ad76ddc97b41 CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bd6672-66db-4598-89c1-08fb09c56ced CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94e369db-55b1-409e-9a38-513e20244edb CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eca6bdd-344c-4f32-bb3e-3dd6fcd6b347 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e205bdf8-82dc-4fcb-8ba1-5dd2bb01d2c1 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d9d5fe-e73c-432f-a25b-4b46261292c8 CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6725661e-6ecc-4a78-8cb7-24bb7c7eae00 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30adfce0-e9f3-431e-ae9c-3df13c76f4ed CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99077aa1-5e10-4ee5-a96c-e288dfa4f200 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93d4f7e-c159-4b44-a818-0fc34b655d50 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38f725e4-faa3-41c7-bc77-75273823936c CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244568bd-9bc2-4cf5-98e5-8e0f025cda93 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f65db7bc-4ebe-424f-8bd7-1ebafdad83eb CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02811bc4-3ff5-4956-8e0b-4caa89528e9f CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba1cab6c-8a94-439e-b601-f9b47b4d88ab CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71dd52bb-afee-4e82-9678-c56689da9634 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 216ccd42-497f-41fe-8c14-42e773b91762 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecb40f3-1064-44ec-bd4f-a49012dd2256 CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6faf55bb-1ba3-4416-a662-aa825b53be16 CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64108814-ced7-4398-a05d-d54c6de8d1f4 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba0c68a8-2077-4bb3-bf60-d0d70194f332 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b390d8-da11-4839-928d-1b221b5cf3d8 CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6532689-c52c-424d-aad7-c6984e5d7e7b CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1e3712-8008-4c57-b8ba-fef967820537 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12e9a61d-c003-48bf-9437-73dbc32ee162 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758de1b9-a81b-49ea-b049-a5413bdf9963 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c987a51-6020-4c3e-a448-a9684d52ac7d CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de1eb38-b986-4e70-b79f-6b18c34ffe55 CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 164e49ab-bdf2-4ff6-8db9-138838d891e5 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbde1f49-1e6c-46ea-ace0-09c62ec5307e CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee9ee920-fc9f-41a9-825c-0bb9d8c59da9 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3500736d-7e8b-4098-9a88-26243972f5e2 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 686d0cb4-4d8d-40eb-abe1-d2866346f5b5 CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76438e7d-3ddc-460d-889b-4966d33616c1 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d4160ed-8865-4481-99b1-0f98bd1740e7 CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c378a552-c3b8-41ba-8d4b-061a52939fee CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 909fca03-6eba-4c07-a6aa-70bfc10566b2 CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3758c09d-b20a-48e0-93cb-6d82d7f4bc97 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dc01293-7129-46e6-9c24-ce5e6dd1bc93 CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c0e9a5-2f07-4b51-be21-8339f12b637d CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 929647f6-0732-44ac-827f-15973dd7a8df CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9636b127-2630-4618-8774-a744a9af175c CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2a9bea1-7b49-4dc4-a9c5-f7b845e53cd2 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bdfdc4-0074-4b76-833f-c7375a9557dd CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57837874-4402-43cc-bec4-da9c62377f61 CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3645ef-e790-41ac-8ca8-d416b99b7b23 CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 871c6972-2f73-4633-84a0-ef73814d0cb8 CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb40ca36-6375-4440-8662-7e43531fd2b7 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a65f36e-b619-4a01-b144-658dbe5e8f9a CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26e7f3b-1c4f-4718-8dd4-0ea024ab6a02 CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2c5b748-8bf5-48d8-b333-e5d54150e7ed CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c62498b-7938-431d-9164-2ee0d8c74972 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc164212-fcaf-4219-a421-2cdb22ff32a0 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bbbc12-19ad-454d-802e-f10a0c8357c5 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05c5f541-ee6e-4780-a769-eea356034705 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942157cf-b192-48ff-8149-8be3d15ba6b6 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9be56242-7d20-444e-9a58-d3830be25ef1 CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b431db5-bbea-4ed1-a9ea-53c8dbe4495c CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01a5550a-d8e0-474a-b32c-d3bffbbe1c9e CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6530ff39-750b-4eec-858e-e860bc3486c2 CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4988c83d-f168-4d4d-8245-97ef9d7d41c9 CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0914af-4112-4e8c-bb3c-858834c1d5b1 CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46d6d3b9-02cf-4e78-b33c-202e44631257 CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137cb2d6-4b8c-4b06-9eb3-72792166ff42 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f657d02-21d5-4dfe-8323-2f08f96d8166 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8490985-b18d-43d3-bcb9-cf9542d5485f CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d9361a6-6a1a-4a27-91c5-40a699179a71 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250a9cf5-9007-464f-acfa-c2dd6ad16a20 CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23506617-614d-40b5-a6ed-4240adc56eca CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4a14f3-b161-424f-b083-b13532fbf415 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba18dff5-7459-4db4-9581-d6cf01dc5033 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae739bbf-a12c-42ef-af45-c9a57ae44a19 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e352e124-5613-4c26-a0e4-b447f02f7f90 CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc78059-f314-44ab-b762-795fb54996ef CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32140b25-aba0-4218-90e2-b94eb2f293fa CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07842ead-c73a-46f5-bd1e-def6a46e1b4b CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0016a42a-3da8-4058-a38a-828a2e188c55 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcdb3b1-5147-4c55-b615-b4c41ba4e302 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98d1983b-9df9-4d55-926c-a717f6474b4f CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b9af42-8bb2-428a-8be0-a9442453463c CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 642ef7f9-6f40-4d96-af39-6b1ba4dfdee1 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e572656-eeb6-4297-b0f9-081c4d803562 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen decadcaf-11d1-421f-949a-7ddabf2f5aff CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453090d3-7999-48b9-9956-b51603deb5cb CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9858777-6a0d-420c-b51e-5b0a147503b3 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01fae593-0e20-45a9-a1d6-7ca982cb5bcb CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e52e002-94ee-4ab9-8571-da354ea812f7 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f87b5-967a-4a66-a823-e22ef4e29aa4 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fa7a2c2-d2f7-437d-8dfb-ae16f5a6bb7c CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9245b17-29b9-45e2-876e-05baf2b592f2 CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cd85c5b-a0e4-4d7c-b97a-915d61ad1b86 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a313d398-43ca-4817-ad00-539d19bb003d CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec4f065c-f747-4b9b-b2b7-e92acd18181d CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3062d2c-2c85-4917-8835-44911857592b CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6597e121-5f27-4e41-b1ba-e1e336c2f8d5 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae18810-91fa-4532-91fa-7691d3572105 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30e4f37e-aa45-4682-8792-9cf86865f8b1 CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e4947c-6438-4692-9f9b-605a92446285 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2faf809-852d-49af-8247-e7ba7919cfbe CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f8d49c-57db-41eb-a8a2-a43e23aff7a5 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cbbbadb-6c15-4542-bdcf-3e138beaf30f CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ad7cca-7a3f-446e-b5f3-593ca0d56081 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd214e52-bc6d-412e-b384-5ce57ca9a82b CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facd029d-07c0-4ee5-8f36-46fcc1ec9c6f CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3bd72ff8-3d32-46c4-b80a-99a9e93c63e7 CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08972abe-674d-429d-80a4-e71c653c1241 CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3819e4dd-a086-4e25-832e-002f5eb666e8 CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949c552a-8f14-4c8b-b2aa-38c2ec98a5c3 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c704c35-7134-4f3c-ae05-433b47d99a38 CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ced13b-9a6d-4711-95f0-9aa5db4b07d3 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 213bdd05-547f-4303-8d35-822b4d7e73f9 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9a41f0-4c36-46bd-bc0a-05cd0dcc7bfe CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f943ec13-47be-45fb-9f12-e625c9765a17 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d36d7f2-3737-43c6-9dcd-e65185426a26 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3df3189-8b89-4e09-94f1-ab7f8292d3cd CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f32f6ca-d823-4238-8b13-e0c6edca733e CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c23ef602-401a-40b5-af4d-1b51844fd342 CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269f80f3-9758-4957-9dd5-7008db337ca5 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b727f0f-35a2-441e-9210-20488643e936 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f609cf4-9144-465c-85fc-6b05671811b1 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62fcd191-7e40-483e-8630-87ef5d8e12da CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d48d4c-b2be-40fd-959b-174ecbbc6083 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50efcc54-e93b-47e8-89bb-f2aa13a741fd CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac891832-4f41-4c4c-afb3-e1f582d8de3d CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cec9cae3-3eba-40eb-bde9-2c4b635f8bc6 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f439af1-f2f9-4ad3-be85-d38ea07192bb CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5161c8a9-4723-4e17-8a60-13af72ffdbb2 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa086c7-1891-49ac-90bc-7a9935a5a4b4 CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 200507fc-532f-42c0-9462-a674831df985 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592c4f8e-a6db-4661-b1bb-da8cbaffc00d CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11de6642-c397-47ad-bf90-6980f5d8c30b CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9fb2180-1791-479c-9f24-3cd7354382b1 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5c89325-8562-4728-9348-9cda218e7334 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39306013-a58a-4081-b14a-59d03de7e4af CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8938a573-6e49-4a6c-b53e-57489c2bfe89 CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8baa0049-3205-4f5c-be90-86eb0f09d9f3 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60cd2fbf-9dfe-4c9d-8ca7-88a79a0b4b3c CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f250c3-5012-4d37-9df7-01b0a8f794aa CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a0b68a8-da43-4c25-8b5e-e76707c9b672 CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6628756e-5b0e-45a4-9df8-3b1419582f89 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f35772ea-dd5b-4186-9cd0-2d37cb704a04 CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a614b797-17ef-4a00-b5e5-6463eb0799d9 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edb9c5f1-dfec-481b-a52f-c76da3aa39b4 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5f6dd5-18dd-4483-a47e-66f38e008207 CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 887990f0-2a40-4e7c-b38f-57e2018509b2 CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c70e92ef-836e-4d38-a0b3-db53e4082fa2 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e84ca92-a572-46ef-8734-4ee52ac4bf71 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2caffb96-d946-4b07-acff-f3c9106b0ffc CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7ced470-73ca-4d37-aed4-c4a9ab4d06d0 CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b536f12-e80b-4e51-968a-d9c53734363d CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6488f91d-ca54-4ef7-9535-68702fb39ffd CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff54f488-f7c0-41d2-bfe1-7be25e72fb8b CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61d18ec5-8c42-47ed-9ec0-0c34c7a9aef6 CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc50552-355d-4a57-940b-485c0016ad8b CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a8cae59-a15c-4336-a7e4-85a015fd5789 CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2916b22b-4534-4565-9698-f9c93c22b919 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ed828d7-3afc-4a31-8bf4-ea36445a09b7 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9973d17a-52c5-4acc-89a9-9b31901e9cc9 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d666797-672e-46bb-89bf-ffd412995cd3 CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42a243f-d8ce-4abe-8bac-efd40866ae05 CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 363c38a8-989a-4422-871e-76d852c4a934 CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb02e87-cad4-4bbd-b20c-924d2e7d4d59 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ad314b0-c2e1-4ed4-91f7-c74adf9d6a0e CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7517e8a-fba7-4a65-b8f9-8cdfd5fe3300 CLINVAR:7959 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e718cb44-fae9-4e50-889b-893988b76c62 CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865ee462-2d85-4fd5-8bbb-a4fe27285e20 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 375b4ddb-9287-48ae-8e75-0eeee40e765d CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43acf5d-8c6c-45a6-a552-437f203d3d0a CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6fa157c-9c54-4c37-95ea-f79d2eebe126 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815cbc7e-74e2-4463-b5ee-08bd39e3b24d CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a2c1e67-27dd-4386-a640-e5a2b60d0f62 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7369bf22-351b-47c1-9c7c-e65e7c627ecf CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f04c27c9-61f0-4b52-b398-c51512e448ab CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b425e63a-11b0-4966-bed9-eca3fb006f40 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 268db622-d3f5-4a1c-9d80-c87141d76bcc CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b144735a-0b22-4f9e-b949-96a38485fcbe CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3039207a-eb2a-4e4a-a3ba-51b2b91c69a3 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69685892-ce2a-4183-a098-b24106fe269d CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9478b7e2-1191-4819-a60a-c6d25eed5187 CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c399e92-2eba-4aa6-aed9-ab481f0e9caf CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24b3fca-7642-41a2-ba0c-f815aac9202d CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74bb53cc-dea6-4187-a044-f911a0e25b4c CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c9b498-4718-49d2-b71e-6be9056eeecc CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 508891e0-41ff-42c8-98d7-7acfcfa2b8b6 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f463fc-9119-424c-8fa3-c137bd2b0432 CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68877275-e5de-4c0e-b678-22675f003350 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e5d9d1-838b-4ee6-9fd3-ff54201ad6de CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ec1717f-23e3-43c0-a449-d6861fabd386 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d341bfed-2eee-43fe-bdee-ebf5f5459f35 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53686dfb-2288-44e6-a4d6-acf7ecb4a3bc CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df55f757-17ea-47b0-b7d1-4bba9a62c6dc CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4cddff3-2fad-4d62-b94d-32f7807574cd CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727cb27b-278f-48b2-8c25-deca082aa106 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22743bde-a96c-4f58-ae96-41e60a76ebd0 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa994385-866b-41eb-9a3d-4e700de7d5ea CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa0efbd6-b05f-4c56-8a24-162ebc6a6718 CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6491fea6-df33-4500-875f-09555a784a7d CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95a993e0-94c0-46d9-80ba-1a042291e267 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea569f0-c764-400f-b506-77d506bcea5a CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c4f6439-f5de-4743-bc1b-6a627d4bfed3 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b6227c-db32-472a-9b65-b1472b1d1b67 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35fa2635-411b-4561-9e19-7510b1d9be71 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d24b33c-efbf-47ae-985d-4fc3d96bba57 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d5ad40c-82f8-4824-a467-e60a9c109fe7 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9febe3ea-a385-4e75-b69e-1e471bc6c64e CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89ce55ce-a4ef-498e-a77b-2463eb51c5f9 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0c721d-270e-41bd-9626-1f0a32a1707c CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f5715cf-0cd9-4244-84b8-8a6530ab985c CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c045b523-8c9b-4457-8863-a3f764bbae54 CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25735cfb-764d-4f84-9ef9-a010cd67c4e7 CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db52ab9-fecd-4809-9be5-8051c02f47d2 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa7754ba-64cd-42bf-9df9-54525c259cba CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af2d9db-76a2-4fe0-bb6f-8f358cb0aa79 CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7bb2c32-794e-40f7-8917-a93cf03baadc CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e0a63e-af4b-4c92-b597-710918202d6b CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ae6b890-13be-4f34-ad9a-b5df20ca7a1d CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0bf4365-9e73-445c-b11a-9abe20b0a019 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ddfd905-fbc7-4425-a294-54f9b4808d5f CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247e2445-1aa4-4004-ad03-2990c27c7d77 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbde59ce-ab2e-48fd-9d30-1090e66f197a CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17940110-2d7f-4c7c-a9e5-2fe03c52e60c CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69d1ebdc-29b2-48f8-9bd8-99d5accbf10b CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d939d9f-3af1-489c-beb4-19aa24b38b7f CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79a65ddc-ec85-4aff-a955-9d7955b391bd CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abeec3b6-7984-45f4-ab3f-240a001b324e CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d665c69d-2815-4046-8024-a6192db89978 CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 640e5de6-6a02-46b6-a2f2-a94592d8c5ec CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 955318c4-590c-43e9-b3fe-30111e643679 CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72dca789-3d17-4929-a578-14c97be70170 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d566f387-9e94-4108-b322-f4d512b74229 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce9e55d-385d-4968-93a5-87fe8309d9f5 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67b7c9b-3e3a-4b8a-bfde-993f34896123 CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40ebaec-32ce-4282-8e83-2223846e2388 CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9960030b-91b5-47ad-9032-628282f9aa00 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb0859e-765c-48f6-a4db-ed40754eca45 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e1e5c45-c163-4a80-b799-ef11dd997ae5 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90b52a3-3d2d-4245-be5a-f602cc639e2d CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42fe8330-c98d-418f-a16d-49c7ea5c6c6e CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d37c5d78-cb60-4140-9268-01ac0ec97ae0 CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66214d86-1bc7-4332-922b-9dee705931e5 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7b318a-8828-4427-a87c-6ff80258f019 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfa9e47d-26b7-487f-8159-164ebfc589e2 CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd452899-c0a9-436c-9e47-beecf097343c CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f46cb111-191a-4969-9211-3ab8c98cc25f CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974e6956-e612-4f21-bf4a-bf5152a734ed CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94d878ce-3b2e-45c4-81db-e42bc44431a0 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8d81bd-35d5-468d-862e-813b5eb871e2 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c19b463-fc65-4fa1-806a-a7be7ee1077b CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d851e2f-34c6-477d-b9bd-1fb36c87f499 CLINVAR:7946 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0caefd1b-65ff-4a3f-a4df-ae5fcf55e1ec CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1699313-15ba-48d6-bdb0-b1a7129dfa08 CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf23fa41-d008-478d-950f-05865cbfa60b CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e6f76f-c03e-44b2-8d71-ef4d0e341f11 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02417d01-813a-4418-a6d8-b896a09732f0 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3742be5-a0e3-451d-adc0-9880871b9cca CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfa9b26b-5a5d-43e0-96bd-825928131e0f CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23114543-90c7-4d6a-8c74-f431d21d0c36 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd06b63d-650a-41bb-a26f-176e36259570 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4685e6eb-0892-474d-ae88-f67526ef0877 CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbab91c3-4d92-4bfc-8026-dd578c2ffe92 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3634ac-00bf-4a02-8fdf-a78f857f6bf6 CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf629535-6783-4bd6-986e-84bc8816c94a CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74bd2cbb-cecc-4f69-ae15-a0dd2af6cb4a CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 093aa47d-9daf-42d9-8bd5-b6fcefd47e5d CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47068c30-2159-4371-86af-3466bcce7a33 CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b7782d5-c218-4201-b4d4-71cd9408a6b3 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469c17bc-53bb-441e-adfc-518b26ce46c0 CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48fc1679-bbbb-4d3e-a1bf-87e97dc0cbed CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe2b812-bfdd-41a6-bff4-0a5e9c5202b2 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82368157-06c8-44b3-8700-866e0863c620 CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4da2d99-dc3f-42cc-a9c0-bd27957df1e7 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce294ff8-f76f-46da-bf2d-74840ded6f92 CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53644c2c-fd07-475b-b11d-f454affc69b1 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0051d5-4dd1-4b8a-a2e4-bd3eaac97a71 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac5b8727-9b56-4d21-ae06-18958c4b9912 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8801ee-f0e3-47c8-a4fd-da5a64b47afa CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 737dc8f3-a2fc-4cca-be6a-2163f7ed8ad6 CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50077688-80c6-49ab-8dba-535f6e2cb17e CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e44cc25-abc3-4c83-ba58-c45fc45ab2e7 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e667b02-fa9c-42d2-810e-21b9cd95b6ac CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fec81467-79a1-416f-8ce8-1207270426c0 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb78c4c4-101a-44fc-a4cc-8ef64bb914db CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc7b0ae0-3e84-44ae-b48f-906be7c89131 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e71fb1-3b37-4795-a47f-c4e6dd161bfd CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c52add7-0803-4063-bad1-d25a7d730602 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f960637-049b-489d-befa-0de8fabc5171 CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e268f0e9-40cd-4e92-989e-a8c233aca2f1 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e649a8-2c22-4aa0-bd2d-14ca2dd018a9 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efe752bb-2544-428f-988b-3f4d64b9015f CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a8b6a4f-cefa-479f-a06d-1ee90cd86e24 CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a1bdc77-c8e4-4145-ae9d-8eec3305d742 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed4fc0f-154e-4189-be31-8080a6c8ebeb CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c58a766-d7e8-461e-91e1-ee0c0d9b4966 CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fb2d44-439c-4b72-8151-74e5f43d039c CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e68fcb19-6a2a-48d0-8de2-3598858bc329 CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ce4096-bb87-4d07-b1e7-56a31cd40980 CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6712da69-96ed-4386-8058-2223a8fdbc09 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5353b5b5-e97e-4f22-a469-91c2dc826f45 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27e9641c-8f64-4f81-a81a-d14d0b6ac792 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102f89ae-2b7a-4570-bd4f-e116c72c6d9f CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1bd2d61-cdb3-4616-b6d7-5833cbe0ff68 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651e1bef-443a-4fa2-947b-a989688ee4ff CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0fddc27-7c25-43e1-88f1-0656e13b4a7a CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64278005-814b-4326-a3e9-a25c527ebc17 CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b9c6e55-d5ce-48d3-9166-25ae7ef2a7fe CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f053a207-b18a-415c-95c3-ba5791c9d46d CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abf9e09e-ea10-4cee-a6f4-c6ad6cc13a18 CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3aa1acb-1f26-4eb8-90c5-6917b485c3f6 CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c59f18f-d932-4e77-a4ce-1b22b67cf817 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4d447d-82e8-4177-ae5b-cb2356cf2456 CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb264274-0222-40aa-8664-9c04fc18eb86 CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fca161f-02bc-4c46-994c-ef7af99f831f CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bed74674-114c-4e4e-9925-b6122c279a36 CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ea8be6-238a-41b4-b34e-af3331716fd7 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acece043-813f-4b4f-a4eb-2e1e376fd6c1 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dcaef0-2779-40ef-9111-ab7c538e89fb CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec6ac78a-5957-49a4-a2f2-7a827a3ef6e7 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107e3c93-ca96-4e99-b3fe-ea3881d199b5 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 837d50d9-014c-4d38-963a-8875cded0a85 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c3fc3a-6983-47a9-8cd4-3e5ae75c4c0d CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16f3900a-5a17-4f3e-9885-0cae5188e40f CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32839500-dd37-4ae2-afa2-6e93ae90d2a9 CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f4e5ebe-11fd-453b-948b-e0ddb5184d87 CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49914d7f-1dcb-40d4-8ea9-76beb5173954 CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4f1313f-e055-410b-933a-b0f87098be85 CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eccd12d-e5d5-42a2-b8e7-3dfb5cb0a7cd CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60bf4e6e-7f12-4ffb-a671-d94f87de37e2 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c81232-201d-4492-b499-caa0c46479da CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b16c86fb-36f6-41b6-9ba4-5bb3d16018b9 CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b67afec-afb1-424d-a25d-75cfaf6edb27 CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31015577-068c-42cb-bbdc-7d722458ed98 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab89527-3b45-4ada-8a35-55f3f5c57253 CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f387ce8-e4d9-4df5-8d4e-ce43b7bc746c CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0790ac25-343d-491f-bac3-c1d371e709a7 CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1009c9e8-4e06-48ce-bd34-355e7e3fca25 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe381d7-bd1c-4547-bf0b-859fd1a6a735 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee6d512a-fecc-4917-8b2f-f8746805ac54 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8da9d71-3eb5-473a-abbf-d16be2198aa3 CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1043cfa2-7e5d-45b2-9a1c-dd6b803e2cd8 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679f98f1-2439-47f3-a36f-0970f3381956 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ad84e88-ffbb-4690-ab86-b62a3d139209 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448dc98f-a841-4eb1-9d48-b93872120024 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e939d57b-bf94-4696-9379-495949509fb3 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8dc223-5f03-4714-ad40-0f9c924a2e4f CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d6e2e20-441a-4b27-84e6-f3337fdea04e CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2627ab22-e41b-40b0-914b-7afc7f30846b CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18c948cc-c7c6-4ad6-873d-2b0f1023b2b3 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7295155c-d54a-49bb-8133-4e1aa18c5ba5 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 673547bc-749b-4b34-b7f6-1fabf042cfda CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d345f8-e0a2-486c-a06a-6b8d578dc9ae CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec80b18f-bc0c-411d-9c91-1a69f64402ee CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83982af1-3012-4f86-97bb-50cb08bccb67 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11fa3414-5099-43fe-a486-69c506b001af CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9a0760-0624-4fc5-9036-b07752741053 CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2431d27-63df-46c2-8380-fdebb8a6ddb1 CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08db6194-197c-4048-959f-b4fbc1261d9b CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d88e9179-9698-4088-8e47-f99522a757bc CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c06594-5e61-4139-a9c7-fe2140af11c1 CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47e1f0cd-15db-4864-a271-904d13e71786 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24228fca-83dc-4911-becf-7e539a41c53f CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eb6d8ba-75df-46cd-a3d5-f5910e6103e8 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045e2fe0-6ce3-48fb-875c-7e5660b3a4d5 CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6052606-e482-4eb5-bae0-dee707cbeafb CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b184f84-e160-4e3e-97f7-2e6f9d26d080 CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2175694f-ff10-453b-b2a2-012e9395071c CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce22d59-de7a-4143-b532-4d8c92cf185f CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b101232e-d29e-4dc6-905a-79343c2ce145 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd70e21-7f5a-4d89-9e68-b588977dbd93 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 753b0e09-d3ce-45a9-8ffd-8ad3131989d9 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d46e36-0ff7-425d-ac7d-ddb7d59da7f1 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2bca86a-ed08-495a-8ad3-269751be7408 CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc29fb75-c582-406a-afc1-e28337074a15 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14fd5d86-8d49-4e52-b0b6-7eac86340449 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30aef655-e7a3-44fe-9f13-69f37eba336d CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 566152a9-62e7-4a7e-b170-68c254a9742b CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10bc507-7073-4d53-a1b3-1ddea0ce9ca8 CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 307e0246-de99-4425-b8c8-f6aad12fbab3 CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b57125-c0d1-40d8-8f40-0f7a30566f5d CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72a94656-c4e9-484a-b6d2-6fdf1e1a4377 CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8947f6-22fe-4d25-bb7c-8c96af2a567a CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e370a0c1-14a6-4c82-a728-1d99b2c6ffcd CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe06456-bb26-4588-b6ae-6d29d5083799 CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fdff6db-a6e5-4578-9663-084f133d0eaa CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdb2c52-6195-441d-8e29-189315ba389f CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8a2c043-d0fe-40cc-85ca-8b746c6a7363 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bdcf71-ff6f-41b6-abbd-2bd62c1a1326 CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7471f740-423e-42e4-bdfb-acb324d14d36 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbc24de-a7cf-4ad6-adde-38a0fc921d92 CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c44e8a95-4438-49d7-a09f-545de3ec9e3d CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8cba92-0c80-439d-a6e3-45a640b27619 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 306c684a-26ce-40c3-bd87-9bf94ce39214 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd899bf-9e88-4667-a8d2-7827632fb1cf CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baec0671-1392-4ffc-b597-5d72b997c553 CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b17a28a-d646-47af-9294-39607b1a014c CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c9d9a77-6b0b-4c23-bb26-601778e05371 CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e460598-53fe-48f7-9876-2324697feca8 CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9ec17f8-0280-4435-b280-826cc24c7576 CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18f05d9-8c74-4310-9f06-7bf745114a01 CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a951dc61-8af1-4274-a783-91fab60a7f20 CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44516aa2-d341-4dea-87e4-969caa912986 CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0c7d8ea-dd31-4f6e-b611-7fd46bc6baad CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e78e7d-89e0-4983-a750-6f701f73a9e5 CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18f3ee1d-56c1-42fa-8be5-55f63f8d029d CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39583583-cb64-4e77-b770-6f7380229303 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26bf0471-8d29-4dd8-bfd3-39faaea5659a CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e2f921-08e0-49bc-aac8-13c2290f7183 CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 867b520a-6ee8-4443-969b-21175fce8da8 CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17bfb13-c102-4b41-a8b2-ba233f4a9566 CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93f3022b-a9a1-45ed-ba74-9f70e1ff08f3 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f131e2f-13f1-4bfa-82b8-37eaeea7f5cd CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fec409c-3f8f-4ee5-81b7-08d6611d3cee CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb544403-4454-457b-b31d-51b3e5b4af62 CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c61c384-272a-48c8-a550-dcba4318faf4 CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924925d3-09ef-41cf-963d-aef8e3a3976e CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen feb481ba-555f-42ac-98da-e0e3657af242 CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c148dc3-25c8-4a4f-bbd5-93c71a0fa504 CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd77dd1c-bb5a-4ece-90cd-e8ae76c053aa CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73bae04-d302-4d6b-9adc-4041a02777e0 CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8e785a1-128a-48b4-89aa-c28c2366f30e CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f179bbd-a5d1-424d-9f3b-cc8060804a9f CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a12596d9-3fa6-491a-a332-a6a2b20de26f CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36105f3-f6b0-4754-b671-3b1b84191f86 CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6091003b-e078-4fbf-af96-0459947a36fd CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156fedcf-bb7f-4082-9464-caeb924632e9 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5a55e2e-1e21-4043-8087-4df3a113f2a1 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969e9eac-5ec3-4035-a2bc-2a565fc6f184 CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dba0eee-66da-4c23-a9de-f93c49dc44fd CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1163b8c7-5fd9-4ee0-844c-e2c3ff55d62f CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 655ac0d9-2294-41f4-97ab-f76fb749f3c4 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcc4ef0-cf19-4ecf-8c94-28b79cf5f1ae CAID:CA386953149 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47e481fc-1ae1-41f1-ac80-f8d426f8474e CAID:CA386953149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77997909-3c30-40b9-8a96-1d163a99174f CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73cf2313-e5b2-4d97-8a62-0e3d0dae88f3 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8645a8-0601-45dc-a608-e5584daf92cf CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen def4a41f-d80a-481f-8489-d182b56a0731 CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716c453e-9594-4a2e-96f7-485979939aa4 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f1f73b7-7444-4ac1-813d-1e9191be7be7 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51d976c-d09f-48d2-b0ad-4549286171f3 CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bb0e8de-36f0-456c-8495-051cd0649b5a CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f5be10-361f-4684-89aa-54ae33efe4f0 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c06475d3-096b-401f-96f9-93ebf6b24bcb CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc292063-12ba-4d17-bf71-007bdd8c8b12 CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50c74218-2127-4519-a18d-c0eb6ccdb98b CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08af0c-5a96-44a5-84de-2f1a7f882cf6 CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a164893b-f891-4582-b4d0-04ef9dfec0c9 CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ecda78-0422-4d15-9eaa-d30357389b7b CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3973948e-e7cb-4869-aebf-2c7d3c6f2635 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f543e7-b851-4b37-8dd3-48dfd4369fcf CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53a3b9c8-1bcd-4a69-86a0-c58b40c88362 CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ae32f4-8f37-4ad0-a7ad-b82b6ea7e53e CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ebc4cf9-fbf1-49bc-b0ad-b16a8a6d0553 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1708d9e3-4deb-414c-9edc-af33c36e447e CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 335a66e3-3816-41a4-8d8a-df5345567441 CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a192675c-029f-4d0c-9f1c-9468227044f9 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee10d093-cd6c-4be1-a7ba-1116f1c278c4 CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0779b2b-27fa-4548-9d9d-30f754872b35 CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d5a7f39-6b61-4b5e-8989-2ae86d3b8623 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fec24ea-f2b3-44a3-8746-2befe795b683 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b0c2ba7-fb89-4696-b9cb-5d3dcc024243 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2b48da-2870-417c-a258-7f5fdfac3fe2 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acb14851-5a25-4d14-a445-4fb997d283e1 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9ab278-8c48-4567-8c8d-dc41af6c9e30 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50f3732b-d2f5-4e8b-bfbe-515092562419 CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c618093b-1152-4574-a285-22502dc24440 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9efacda-2349-4ed1-8360-c7a43c6a3574 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee03dba-f084-4a2a-86a7-91213291b9d1 CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33f73766-4c40-43d5-afc3-57dc5282afb2 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a326ae18-2a28-457b-9227-db9bd613a6a0 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ff25f01-8473-4f7b-a102-adf264a00fab CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da50a5a8-23f5-4ac7-af71-82ffab835b5b CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d534269-c2bd-442d-98e0-505974d4cbe6 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f392af-9d9c-4e58-a763-1cba2231e772 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4dae9da7-9ec2-458e-a25c-51e4960e3500 CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4365ea2-19f9-4b70-88f0-d0eafd72e891 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 970f9513-5c64-4cea-8ab8-7f6dd419f218 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb28025e-92e4-4545-83d7-a7f54c6d0638 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aebacca9-9512-4250-8bd5-253058321cc1 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413eea92-cc02-47a1-8233-1d17c90777f2 CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fcd16d7-0c5e-47f1-9cc3-3bea657cb1e8 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0824d0-8465-469c-9b55-866fd1b7490f CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dad85ab2-6a74-4329-b1d9-cd694ef5c69c CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e674412-ef91-4377-8d06-9b53300c8a93 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6104a21-83bf-4753-927e-12dd43b411c9 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0502d956-2aa5-4429-807d-0a805c3f0699 CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f21288d-8361-4705-b6e8-de2195229801 CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f15e85-418e-4ad0-8834-8111d26ebec7 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17ae178b-e4d9-4b81-9291-229ecffb25e6 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238499e6-4ea1-472a-98b4-6b5884a4c1b8 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c30e0e0-7c2d-48c7-a5fd-1f1ead942d4d CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e37e34-672c-412f-8264-85802842bf5a CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6390ccc-aabd-4f44-9c14-47cef1829276 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f3be35-2240-4e92-a9ad-109e823521da CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f962ab1-3d19-4864-8612-d90bfac58f03 CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920514bb-35a2-4f0b-bbc0-6b0c527ed23b CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbd098bc-42d9-46a8-aaf5-ecb392e2232b CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da3317b-e1e3-4fde-b135-65d7870d8c6c CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69004d69-8e86-4d89-ba34-cd4ef9267bcf CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df22cdd-78df-4f79-aa79-ecd13450480a CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57707459-978b-4e2a-adb5-06e86ebb9182 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 568e7242-78b9-4097-a2eb-8e77569c7f36 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a876d29e-e711-48a2-9aff-17c4f0c1f95b CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14cb0e8-8afd-4be9-b3f2-d77ccd99381d CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3cff9e5-9b99-4850-b6d1-ccdb684c2f40 CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7580fe2-f104-400b-aca9-7b6b21f3179d CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d08c9380-b4b3-4c17-b481-ed2adf1d70f7 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a59bcce-feeb-42e2-a4c4-661a5d47f918 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bce02363-89e7-4197-9eb0-a581387109af CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe969176-1b84-4a91-b8a3-197dd2d0fa0b CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c23384d9-6f5f-4a92-b3dc-6d51fdc35282 CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291ed4fc-a098-46fb-8213-8e0c38b77bb5 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c652f2bf-0da3-46ed-b031-1cfd8e5accb7 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b99c14-cd26-4621-a871-aa62eef2201a CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6197d04-a93c-4bd5-ba0c-cba6edbf0c80 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8549b75c-599c-46fa-afb9-b6a92ea8f960 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87f81e2f-8fa7-474c-bd4e-81072d771f6e CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c68961b-8af6-48b0-bd78-b48f59b51f62 CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c8d9da4-db3b-4a12-8db0-46f9ef6d5b97 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8ee79c-4fa9-4d6b-830f-d911700db69d CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49ba311c-4cf3-4fa9-a56b-3cefb71dd14b CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6508d43-7006-46b0-a6d5-db014b2e6d25 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdd6f00c-5427-49e2-8e73-7fe1e81fa488 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a26e3b-2aff-41c0-8aa0-9059bd841c6f CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22a09d19-1051-4ea3-a18d-0606a523228d CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2f4a18-4602-449f-bce8-45e1363d9fd1 CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ea82b65-e991-4b00-ad4e-4a5b61d789c3 CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a87fe6-318b-4777-91fb-a68764f3ad96 CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 643e11fd-6b9e-41be-8271-d08f56b02077 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a81dc80-72fb-4af7-bce3-c9f04a5a22f4 CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aeec720a-ed7a-46db-b664-340707fcb121 CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4e2812-df64-4447-95ad-93e241873115 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4364517e-a060-4327-845f-c740a8e1415e CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018ecb0b-4e35-4682-a49b-99641029594c CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3fe6689-21c2-4e91-855e-6757328e2a75 CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22443a23-6b52-4509-a4c9-1e4b7a5c7c0d CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cf47a41-1dd7-432e-8857-dbea4e2422f4 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1ce22b-13d0-4774-a01b-6d7ad32c6682 CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09686c1e-650b-4d1a-a3fb-c8504f529481 CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8622b4-f537-440b-a851-8b20f896a066 CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79d6d277-9bb9-4c0a-b155-70bb63bce8cf CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b5aa19-3671-4389-b32f-36411068cee4 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae3f83b6-7c52-4235-aca7-e4a930271aaa CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4b8b37-587a-4644-86c0-a2b8a0af04cf CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d0fe994-d635-4ca2-a490-100777e3d676 CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1a3237-41d4-4d34-a071-3e65717efe71 CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec43830f-9cbe-4a46-ad69-87e3c0a2662a CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf25762-ad48-48a5-be4e-9a24a1721a53 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7eeedccd-c017-44eb-883b-1e21c68ddcbe CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02769fd-b5a2-40fa-b395-3dfbb2ddedff CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 266e8f8a-18ff-4eff-94d0-f6110030ac24 CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc08a83-8d79-47b1-9cf6-0af7355f8db6 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 209a48cd-c0b9-4dac-bf00-2b2a80d10125 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1db6104-18e7-4ae1-8eff-2321da2a7d14 CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50b446b6-c4f1-43a8-bad2-db5d72c9a7d3 CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f46a838-a03e-49b6-b7a4-8c5d38e53319 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d775ce32-8a04-4359-98e9-72d18028c47f CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b26c82e-8c05-45b1-89f8-a27f6ef15d1e CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen feb8d3d3-8adf-41c2-8912-8103aaa80cd2 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696cc4f5-d41b-4103-b205-2d59a31470ea CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c72cf1d-e0d3-4aa4-a6d3-d7bc43640f2f CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb2f196-0115-4089-9af8-a544f772625b CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2335715-bf86-4af7-8f4a-6bdba9d14077 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173e04a9-8484-4558-8b8a-0b4620d9bf09 CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23b8bc3c-b843-436d-bc25-02d7c868a298 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2396cae6-c1ee-4ffa-b52a-d7c4c92ec9bd CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3f84f2a-4982-41a0-a230-47ce7ad37e77 CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b8abbe-488b-48f7-af1c-8627f8f6e541 CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3728833e-6a67-4162-b159-887d0a0de141 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c141dc59-0a72-48f0-8c4c-5fb23472495d CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a6affee-eb60-4f0f-a884-7876244dc9e4 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2418ab8-0592-45be-8782-f16c89e222dd CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3673aa9e-a941-402b-8904-1494d992d975 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2056b58-e36a-4c52-ad1d-af5cd31932e5 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 956a66f7-87b7-4abb-a616-521ea0fa58d6 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0dfb63b-30c7-4674-9b2d-a6680804b1d3 CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17ebb9e9-6c14-4297-9e80-67e7b9c415bb CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffe7c08-a067-4893-a61c-3619731f3011 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c05f184a-d67e-4abd-8eea-9e396d4bc703 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0f5522-6908-4c8b-97e4-49ea93f09893 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56a389f2-7f25-4cc4-ba3e-f594eb2c4335 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9007bc-eae9-4726-911d-e0500f6286e1 CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bdd83b0-90b3-4213-978d-b7357fb2c365 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b40a14-3673-47bf-a78e-49bfb4433478 CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a61e9428-e316-4a57-9b84-1a1f1459ebce CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc20170-3481-429a-b957-bd3e4026af90 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e50b46ae-f934-42c3-81a7-1f8240e58007 CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e8c697-0d3d-4d7b-a9d4-c579327a926b CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 273887a6-d0cc-4912-96c9-38842e0f33a9 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8877b6a-f352-4a4f-a069-f529cd2f72f6 CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 211e39e8-af3e-4e28-94c6-95072728b698 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b866e3c-8681-425e-b1b1-32d829bd1c23 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94fe2692-3233-4b45-a953-6e8fb5c1e183 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f22d270-dc8e-40ab-94fe-8be3e203d952 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b594abdd-89b8-417e-a4df-32759d5c602c CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fea331-f948-4815-b219-941d4f2c9612 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abaf047c-4ea4-4486-ab39-b24843cc8971 CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec2ae00-c7b3-4165-9390-ee56d6a09c65 CAID:CA386965461 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9acf569f-3afb-4458-bf4f-c4e9fe983fdd CAID:CA386965461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc6d1e1-401e-4e20-a2a1-7ec21ed9a9fc CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb036cb3-8399-495c-b2af-9ead1209463a CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e28da3f-0dcf-4576-8c1f-2d7dc64bbbe4 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 092e0506-c02b-4058-a805-6754fda18a37 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048ae400-7534-4100-b4d7-12b6c28e8548 CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbd2a934-fb51-478d-bce7-ee75c8b0c421 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1aa3ba-24ed-4c64-8d5c-2c133f46affd CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0d978f5-c7c5-489f-9cd0-00eed25f167a CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cde6551-2911-4075-bb5e-adcdbcce382c CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0377086b-02bf-48db-b539-05342fb7c249 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e35e1b0-86c0-4bb6-8011-a597066cd08b CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e75fce6-b41d-400e-869c-da23f57d8a51 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68986096-2396-44be-8b14-32439a2cfa90 CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a0af5ca-005a-44a2-94d0-479c8b163c86 CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6fff4e-36d8-455d-b7e3-dc0a1bb353f7 CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf971a89-a49b-49d6-be7e-b238a6a9dbe9 CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c4d8e3-7e9b-4165-8250-c1110a7c51d7 CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c880560f-b476-4117-a905-c74ad772f55d CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16813a9d-e36f-42bf-a6dc-b27671a8a7b8 CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e13e1d2-55ca-4537-b717-af42a6a2e2e5 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 671200a3-a10a-49df-8d7e-d1fcf384b07e CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adb0e597-4079-433d-87a5-f755b1ef76f1 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be18d4cc-5390-41ee-9203-59b05f19ae99 CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 428b1059-f963-4740-a093-0d1d07781469 CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d69d5fe-89fd-4dd3-a55e-976b3821e9e4 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0394c80c-5770-4a8a-bde1-988072c925ab CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8290e2f-ceef-44f0-bb3c-4cd8664c6f34 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcdbc465-bdc8-4c00-ae1c-725d3d452431 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c86123a3-8db6-4ce5-801d-1a53ab24761d CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddd54a37-59ac-4766-9b94-964419e744a8 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77825c83-d836-4e43-99ec-26354e2cca99 CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24cc44d0-dca7-40ff-ac60-4e3e145c65af CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e256d8d5-0af1-4fc9-b548-f0a6ac004c3e CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0d22680-ad04-4915-a718-c336a80c9753 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf040fb3-1c3b-40fb-b2f3-1394516ba5e6 CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39143322-a421-47c0-8f47-8b06b331bf58 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f01f4a9-65d8-47f2-8392-8e972b5b3866 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen add9ce1b-acc3-4e85-a02d-f463318d4797 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb091ad8-5b82-47b7-a47a-4a741f668c55 CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f97a3eb-46cd-40c1-96af-a08f630adc7b CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0546ce-4c9c-405b-b75b-4fe639dfe5ba CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49f9a04a-a1db-4dd5-8245-5dd5f14b858f CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3322fc6-ae16-4da8-b4c3-24264a89c81f CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b69fe6a3-9807-4e00-ab6f-dcf46a2a7e42 CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607d5bae-c6e3-4e6b-8d82-00104e4826a0 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ce2958d-0f3d-4305-bc4c-0674d9504a27 CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f557f2-e1ae-48e2-8dc9-862634948495 CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af8b02e4-252e-40a6-b2dc-0cc0302ba6c5 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cac8dc-6fa5-4b5b-827e-c323054a2843 CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d18a7fdd-7b23-4fdf-96d6-f247af4eecb3 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f35c70-107e-48ab-a22b-9de665f66241 CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 406f89ca-18eb-4b57-acf6-a736dc4bc1ec CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2346348-decf-4e4d-bf7e-6bf0fadb8c97 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcb4f463-9fb7-4548-9aaf-736c0a09f1c9 CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bc4485-8e79-47d7-be1b-e13594306643 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3478df4-ebdf-4dac-b631-488555daf784 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e610447f-f0c2-4c9d-8477-f0a7a697a468 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30e566b4-0bf6-400b-ac99-501d68c93567 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760d3ded-23a3-4174-bd86-52eeeee45c20 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b2ef79a-fa08-4081-9fef-f4bc211d9e47 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62f38ca-5917-4562-b61c-697e588b2536 CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81056069-3e93-43ed-8a3e-b90c1aa4eada CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1e3d26-0d5c-4fee-9981-32c62c3ecebb CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fbf0840-4a5f-4a72-9530-3349bd10dcad CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f56aaa5-0424-4067-acd0-b5a029c84cc3 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c6ce40a-46cc-4021-8c35-aec2c7a7fc9e CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39932fe4-d224-420b-a693-f7a49c75f3ec CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5054c8ea-99df-4b1f-94e4-3d9699498e14 CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b60068e-49ec-4090-a8f6-e8f69403f5cd CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 346a68d9-72f5-4908-b393-2eb7b4aaa0e9 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb0c991-e58a-4aac-90b8-8704ae24467c CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8800ab5a-6d98-4163-a052-294f7ec1f914 CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed72d02-48a9-40c1-96b4-17a816aea3fd CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f8b182e-a868-489b-b263-c7ac7d0da69a CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e72b983-8c69-49e5-ae6d-a66778db4e77 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 103fb746-7d15-4c8e-81a0-2574355c39b9 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d046ac-f639-450c-883c-4c6a29e9c135 CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 892c29c9-4384-4608-aec8-64cb663d76a7 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5747ecc0-98ef-4cd4-8816-f0f5cf21a8ed CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46b6821a-3dac-4b80-96ee-97b1d82ed040 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fcf405-61df-4f08-b39c-f218d9832208 CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5061331b-9679-4e2b-9077-81547b34f937 CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23ed726-ddaa-40ca-a994-ffb3b717e398 CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a316e6a6-90a6-4a46-b090-e6992b759d76 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50b3253-3ea5-4e5f-9010-ba4cbd791722 CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80884f68-ad87-4b0d-9d94-e8f6f91bc3e6 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77915c70-1bf3-4802-b01b-5892e68daa17 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c70ee055-529c-468b-b477-76464e814502 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7378263b-9d0e-442d-ae89-918d73d5163e CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ca37f96-d046-469b-8297-c2f4d30f9b98 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4d2cd8-2750-4f57-9e02-c68aaa0080c1 CAID:CA386941334 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e95579c4-e197-4033-86f9-d0f2410c065e CAID:CA386941334 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03448345-6be7-4a4f-91f0-62354237dc22 CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3a49927-bafa-4214-ab19-786799117466 CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba3ccb5-c48f-499d-b175-c315a29edeaa CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36be191c-1032-4fbc-b871-861e8745bf5e CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfa2ade-c713-4ff4-aec6-6907ee266ffc CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c91e9ed0-4a28-423e-b3c2-9c35e132edb8 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c2778f-7091-4fbf-82be-8a6c760fbb2c CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4afe115-646a-400c-969e-a2b8e00ffd23 CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d663556-c9c8-4cab-a5c7-a0e49615dba1 CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a17289ea-472a-4c2a-b841-672d56a8dcfe CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16303d4e-96a1-49aa-9d93-a2aa35ab862f CAID:CA386958679 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8189aa0-fc5d-4a56-8dcb-bcf1cc4f0e09 CAID:CA386958679 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59190562-cb71-4469-a19b-7fbb54943485 CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d819bb44-9076-4d9f-b664-13762bc7c82e CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7642328-8e1c-4924-809a-237909f47073 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c37f0ec-ea8c-4fef-ac2a-cb3396edfd4d CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18a94f3-e7e3-400b-93d8-e4f86dd95370 CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd41a178-4f5f-48f5-b87e-46ced145b936 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf6bbe2-75d7-495e-a675-9c0ed77370bd CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b141be6f-5b25-4c68-9af6-b802b5db836c CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d541311-d292-43f5-baa7-23881de4c147 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a586c28d-e180-4d8d-bcd4-41ef2c9bafb0 CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573f6f8d-c190-43a8-aa10-2581e2bd8b9e CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 951ff6f5-04b9-4656-9d73-5a6f537f3152 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5500b8-66a8-4b51-821e-09882f460450 CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d20ef198-bea1-4adc-90a5-fe8ddc333f76 CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a038b9d0-2bbb-44c8-a69a-cf279294aa44 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2c86907-5899-45ba-a0b1-ed8cd0e0b5f8 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18578a79-e6e5-47bf-9be9-d57c9189218f CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7f7f041-71d7-4435-beec-60bb6ec9eb92 CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 407484b2-8223-40ba-9342-53b4477d572d CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 856e5636-3404-4293-a56e-c8339a6dc0ed CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252fb7c8-d6b1-4f58-bd7b-1f8163ed2975 CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b5e3a66-623b-467e-bea9-e9da0a0f927a CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2606e634-0b6e-438d-a48d-ab785e8c8b9c CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98d281bb-2a05-4819-ba6e-2f971fe38db7 CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3670450e-e19a-461a-9328-681fa211b5b5 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82f3d7b3-33a1-472a-bb7c-990568930bc1 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea525c61-c829-4f12-8776-44b8e424f4d1 CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15986726-140d-40d7-bde9-624d4a9d7372 CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6822da8-9c86-44aa-8405-ff747c898e81 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39e4639d-aeb0-4fb5-9220-ae3ece05835d CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6d399f-afcc-4c41-83e9-4d539f0bbde4 CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ac5acd7-492a-4691-a8d0-b03654598e03 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c393acdb-8e47-424a-9be2-9e8c87ac739b CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8c214c1-9820-4698-b743-581de058538b CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85855188-d5b5-4de1-8fca-8bbff693ef2e CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71082819-fbe7-4591-9f51-eb41c0eb66a5 CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c02b5e8-fa77-40d2-9d30-67692b5f738d CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 502c76aa-88bb-4e84-a601-9df2aed77998 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54a92ce2-f9d3-4575-8a78-3b5fae558c25 CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08036d31-350a-4424-ac39-534923c015bd CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d69322-f048-4584-8952-66df798368ca CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d002aed-04f3-4880-83bf-c3ca6de3d6c2 CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3365638-042b-4cc4-a3cd-6c6c2ff62b8f CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 563db457-326a-409a-b29d-9b7e307518fb CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e9283d-4ce0-43fb-8fe7-718ba47e4025 CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa540f3b-8521-4bb7-95bd-e8e26e2995e6 CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454f4d46-6a39-4c71-8252-a95ac8cd5765 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15a08e0e-161b-4516-ac17-3d94adac6120 CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59d9cad-cb98-4e52-8672-cfe6014cce6e CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d6a2601-1a41-44c0-8f5a-fde25a59e2f3 CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb93f151-f6f8-4d8e-9962-07fa0e75d484 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82d69685-2c0b-43f3-b1c7-152c40282f40 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e70c4a-cfd3-41a3-87f2-a59a8619b145 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1c28af6-c37c-4720-98bd-345ce0c25827 CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18705dc4-3a1c-4133-92a5-9687908e8dc7 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41ca45cb-2944-471b-a383-d208db5cee09 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb67f8d-a4c9-467d-8083-b6e06b16bbfb CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4b8aabd-dfc5-4cf4-a7bd-9ec87a8671c9 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6659923-a167-44ba-ac0b-f85984cde187 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c24b9c73-1e32-4f58-afc2-4bf9107b3e4e CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018784a6-158b-4507-84d4-58ec77359399 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25d393e7-90e8-4561-b696-76ff5f897931 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160b040b-c6a3-408e-834a-8e64a439eced CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdf96dea-beb9-4051-b1a5-cd94b0a2c269 CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815a6c70-b5a8-4a8d-a44a-5af3d77c944e CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4718a3ab-b6e9-4ac8-9c78-f99adf95662b CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e16f95e-9743-4a0a-b722-db542e0811c8 CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebd89922-f090-46e3-8778-429a583796b0 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2424e1a5-e7a5-4a4d-967b-ae11605b5a59 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37300a18-e15f-409c-aea0-52fe7ead119f CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa52528-078a-412f-92a8-3c2f4d78f2fa CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5b62e15-b646-4706-9f93-cf992020e216 CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce05013-d20f-4b84-8f28-10de9fa7f501 CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae793939-b38a-4442-b4fd-e12ad1f93fe3 CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9894405f-2bb2-48ba-9eff-489ee0766829 CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 466e8449-6288-4eee-a5e4-0a77896fd4ba CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f3c169-d057-4547-93a5-c06cadc2c6bd CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d409ed6e-4220-4d96-a360-1e68cb0e3538 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8d7461-0f44-4883-8b07-6e4a3f6f58a5 CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c90e8f36-124c-4499-9f28-4c6b4ac1eb27 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4873336e-2374-4787-acb3-a20b94a1b337 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22634192-3d80-4708-a698-3d128d07043d CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbfaa437-009d-4399-83a9-8e13c52c56e3 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3047824-d696-4002-8c51-7f86ab8661a6 CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514defb1-5fbb-40d5-bb23-91048c4ca84b CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b05fc97-ec6a-4c57-af84-24610af3ccf8 CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a0795d-7324-4018-aa3c-742cc53c6e89 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c05681d-3773-44d8-9d11-42282c54007c CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9004739-7385-477f-a128-a76d567d0682 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0d7b7d3-6644-4a4e-859f-5377185e85dc CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8f2295-c157-480d-925d-e16dd2eea013 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 197b6c9b-93aa-41b3-a64e-6c2185c817dd CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7327acd8-94a4-4329-bf0a-a0ed1bbff405 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 188d54b0-972e-4f3a-b623-9c0132d27f9d CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d97095-578a-4d47-b8a7-2932f1f6b3d5 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44cc61ca-0d1b-435e-88ed-5611fb2c5d3e CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7013fcb5-5f73-4bb1-8d1b-1cde00914cd0 CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a249f343-adeb-408d-b7dc-d2333fad9534 CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3bfbf4-306d-4731-99a5-0c55bf446368 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d36052a7-85a9-4ee9-a0fd-dfe4fa362b29 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471b7e7e-3dfe-4677-a3ae-e86b69dda41b CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b18cd965-a703-481c-9b17-24c187d14290 CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6194b36-d7d7-42e5-8cb1-417e43ae200a CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f4e03e1-f38f-4091-9a8a-6f4bbe7a5dba CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b83387a-5c69-434c-a35b-859c87c0aa32 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e33e87ec-c380-4712-8a0a-fe96c6a4c9aa CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606febe1-ca76-40cc-a21e-87bcfd8e43e4 CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8a3fb15-e233-4048-8aa0-88836cea1a03 CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa42bc70-d6d5-4c50-b8a0-cd077c7a1276 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ee02640-8f45-420d-9cb2-e77c9019b16e CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45b4c472-01ae-4473-9a62-cc1efb3719fd CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0873b8b1-d5d6-45c3-848f-c48852589d6a CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625076d0-e278-49fa-aa58-59eb023db686 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 526e08ad-e6e9-44d7-9fc6-eca9c17d837b CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad67473-7935-44cc-8546-efb9e28cbe81 CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e22e10c-bd73-487e-83a3-fa44f3eaae6e CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91897835-27cf-4455-87c2-74aacefc063f CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72bf10df-beb3-4024-824d-c67e78a1976b CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c234358b-7249-42c7-b392-44689b5bdd77 CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 756c239a-c913-4bee-ab57-9c43447bd9d8 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0f321c-3590-4c38-83c3-5025a47256d1 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ee142af-7492-4b33-aecf-0ca9deb6c5cc CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5d7741-5e84-42c9-915a-6e9c21e94e1f CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9ae27fe-1417-431c-8617-39b96b473398 CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf15977d-3855-407b-845a-777f4f033fea CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33fa1c73-4426-4558-8c97-1445e58828bb CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770051c4-4259-48d8-a3d6-f63d30b0f373 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b9440de-75d7-43ad-b03c-b52b021f5257 CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aefaf43f-fc36-4a27-8bc4-f28e3d361dbd CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddbeacf3-5970-4dde-bff1-5e601f6854ab CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc73fd2-ea66-47bd-9947-6a4bd1d0abf6 CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf181b0a-3184-49cf-b634-eed70d01fc63 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50074be-a053-412a-94db-be29e2ab3ed1 CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7cbfd5f-f3d4-4951-868e-e56e139055ad CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e6a9038-fae1-44b4-b101-e42002170c86 CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec130daa-b368-4627-ac7c-fba1f791d8bb CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758b9e83-8d3a-48ff-810f-6d866ed80fc2 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dddc986-fe97-4349-9edd-6b241be181af CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a963c49-5bf6-44bc-856b-8a4a7e2f032b CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e8be41b-4ff4-470a-87fa-d03c57326b37 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0d7756-fcd7-41c6-8207-e95e82cf7f9b CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d774bc9b-71d5-4bca-a040-c44baf2e7b7f CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15be922d-c308-4871-8bdf-e264f20bd03a CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28bb95d2-82b1-478e-84ac-2bbf0afae773 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ae65a7-8ff0-46e9-99e6-7b8c71eb0eed CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7956d0c5-b8e8-42e9-930e-d922b605a9d8 CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d3a61b-2259-49b7-819b-01d66928e46c CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92795ee9-db28-4f06-9fdc-a6a6ef317f1f CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f497be3-fc08-4b2a-9144-edd5de8b8eda CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de511cac-ca97-4846-a59e-84687c7c586c CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe300ef-fd1c-4563-97c0-b6d5ee61f5f3 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33f75555-e114-48ed-b228-2605c7ba92a7 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957f6e61-3998-48f8-bff8-9a1d7ebaa658 CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d321eadf-4778-476e-9090-df63f87de8df CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462904de-2e78-46bc-b4ff-db8b4def4057 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d4c90a4-f96f-4918-b686-0851e645c7bc CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c9797d-69b3-4f27-bceb-655396b3f50f CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 333ec3b9-09ad-4cdf-8777-a8c713a122dc CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769afe53-6166-42ea-bf4f-ac7fcf319e2f CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e72e444c-d47b-4ec5-b5a8-3df7eaeff29b CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c63655-d6f3-43ae-b8da-d1b6680721a5 CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f4eff85-14d8-4fef-807c-4618f6c1bd53 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f234c82d-e544-43ab-884e-112be2b820c3 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0db35dd9-5cbb-401d-9d14-d47ad35e3bdf CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af391b3-d017-455e-b530-a6ceaece2426 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8407d51f-3948-4a4f-93c8-f71dd6c436f7 CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b713933-f6d1-4837-b3df-6b1bece57eae CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38a74633-59e7-493a-b7e9-46f1a23f1f5b CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3990785a-5a16-4011-9e61-dfc00d9f83dd CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1df73f8-f371-4511-b466-b44839e01062 CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fadc1c0-292f-4ae6-ab3f-9a92386c819f CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dedc3e90-4f79-458d-b5c4-c3e2657d51e6 CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e540ee-046d-44f5-bd70-636e3710daea CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be78311c-6462-4ba6-b3eb-2687522bfeb8 CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0433476f-db3f-41c4-8272-a385ddeb42a0 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b4774db-82bb-405c-b3be-f69ecc23d124 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae0bdcf-72a7-41f4-a4c3-cfabbb0466e6 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67d41d6a-a09c-4903-9288-d44a38294350 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afda886d-4fdd-4142-bb67-37765fdbe3c3 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c08431fb-7603-4f43-b63d-20c8fe39afdf CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa59f64-74f1-4db7-947b-5d3dc05e642d CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97375ccc-745e-40e2-92c4-2a17b6e4cbad CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa815b0-06b6-4f67-b1e4-a6824f5f8e86 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01a69273-8fd1-4c4c-a59a-8d0779f019e1 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffebf43b-2b0d-4284-a940-9fd9857a7890 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1301278-5868-4795-83ec-27fe7028b3f7 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0c69b4-bd55-46b4-a816-99fa747e154b CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8765d0d4-78a9-487d-bf3e-73d6718fbc3d CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b834ad3-d220-46ae-95f2-e70fd81e7f1a CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce88442a-b4e3-48d4-88a8-8fdbf94ce3b2 CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1e89fc-2b67-4c0f-8761-36f04c48473e CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8f7e09a-e5f7-4e6f-8841-04eb6bc7f380 CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7231bda0-f077-427e-af88-0c657ce47398 CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc2c9140-a725-4b8e-9c18-dc19716b4fb4 CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a67f70-80b8-4a5b-87fa-09c78d890a65 CAID:CA343726016 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42cf6afc-5599-4835-ba25-3668549b116c CAID:CA343726016 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51bbfd0-a9fe-479f-b6fe-b758076c8b1b CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d1a3110-161a-44c2-99db-cb7315605ead CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc725c8-4865-47b6-aeee-eb493f3a4ca8 CAID:CA1139532728 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a2c10b6-96e5-4cd5-80cf-b0250a8151f4 CAID:CA1139532728 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601570fd-419e-4aa8-a25c-674f2f927049 CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d63b476c-eea4-4e3a-8801-980aedb38380 CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44934da8-382b-4c7a-867b-ca0d5cf7e2d6 CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8379074f-c90b-4f90-81de-61d00f1cbb98 CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8281d5-5900-4c6f-80b5-e095a8616786 CLINVAR:7954 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6ecb7b8-51ff-4a05-8273-765269c2f292 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88eb7a64-7d6c-4a49-9972-822cc22a15cc CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76fe8d26-72e9-4ce0-ac81-fb3347bd170c CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c61158-ccde-49da-99bb-92b86fd13d03 CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15511dc5-2387-41d9-980c-c1ad2e5992b1 CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ab8a88-20d1-44a7-9a0a-054136d017e4 CLINVAR:7956 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d000295-220a-40aa-a80c-4baaeb2e6eb6 CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f71d2d3-7c11-4f31-b6c2-f221fec170e4 CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a54e464-6b1c-44d3-a090-7e9f68b0827e CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edb74d30-3b5f-4899-b3e0-267b3c116189 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bdb2759-798f-43ed-8f0a-6146091f9e6a CLINVAR:7950 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df862f19-b71e-427b-a777-6a8c5e7aa2d1 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ea11a9-3d3a-48b4-941d-6fc5263bea9c CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb67e051-ae17-4847-9dcc-885ae58e71f0 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ea2f21-dbe7-4aaf-aa7e-f9e0ab19a6cf CAID:CA343723150 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5297d943-3bba-48e6-998f-367850b18ce5 CAID:CA343723150 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cae7d72-3df1-4167-b2bc-77cccedb5a86 CAID:CA1244022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a682f67-1d13-4b40-9ab1-a5ecfc2c5d04 CAID:CA1244022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a1dbc4-b940-44bb-8cab-57bb42f929ae CAID:CA16616748 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca93f2f8-6880-49b6-a29d-6096ccc6a2e2 CAID:CA16616748 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f3811e-a844-4f71-b6a1-95564e954f1a CAID:CA343723135 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 393f6c6d-7166-45b1-a94c-a738de968368 CAID:CA343723135 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e623ef2e-b5dd-4644-b3cd-a72c51386c64 CAID:CA343723138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8826edbe-e18c-494c-8508-6de88388d4b6 CAID:CA343723138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc14295b-f1f7-4649-996e-a30fd9cce600 CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2a7c0d0-0892-4b37-a34a-b93286e24df8 CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b61a1e-f18d-4bc9-898c-6ef89efbb56f CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 944f6ca4-59c9-4cbb-a578-6142a7d2c1bd CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3779deca-a857-4d46-8d9a-f13324c89a28 CAID:CA343722837 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb422edd-b29c-4d0a-bc7e-6b90efada49f CAID:CA343722837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00fbe008-230c-46f7-8f75-51e65ac8820c CAID:CA343722794 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd441974-cc7e-4275-979a-d24087c20992 CAID:CA343722794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec46d72-aadd-4a2f-ada9-2d42814d97b5 CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 220618f1-ec3b-4556-94e3-2b01dc26458d CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f20ad2f-b80f-4c6f-a3db-2ffc7b8c0ebd CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a42ebefe-ed95-4447-8d69-0771e61160db CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5271b09-e7e3-43ca-803e-b8f636687f84 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8ed33c7-b185-41af-aa83-8578164bc3a2 CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ebaa222-7eb1-449e-a049-1c33f0e8f418 CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5781bd6-26b9-4246-a4a4-6b820bc2cd09 CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d097facb-3281-4f4a-aeee-27839af96563 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13053cee-9322-4e40-a911-6fd881b8a968 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c9d426-dcd0-4e67-adb9-87f2f9c40b9e CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70834301-7e0e-4f93-83f1-9c8a911aaff4 CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d875898b-92b8-4726-9c0e-e70108c9d9e4 CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e89daebd-ccef-4d11-8b8c-a2ed8d9c3ce5 CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fe9e7e-eda1-4d95-821b-a36de20e886d CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 527d1f8b-d288-4ab4-a461-4dd817dd56a7 CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1846601d-20bb-4a3e-b0cf-2095d228720b CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f9d17a0-144a-4722-842e-ef78ae6c2db1 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9cbe9b-161b-4c95-b77c-b5b43d9070fd CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc1b5b2b-2a72-4422-9687-65d14cdec204 CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e172d57c-6fce-4b90-9a03-3381a421b220 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ae76bfb-c096-4258-9d0e-0e2a8bc2a0d3 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a331f8f-a204-4453-8cf0-f5106646cdc1 CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7a0a326-3bf7-49eb-874a-bc111ef9518f CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a25c09-56a4-41bb-b08e-c77aaa40ddee CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92ee9098-afc3-4fc6-b659-23bd53554fd3 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933a6896-34ab-448d-959c-39b811c58d25 CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5644bd5-3fa2-4ee2-9dc0-01cd6d11e253 CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324c08a4-333e-4d76-863f-51901b6c3a11 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2daa077e-43f0-4f48-b2b5-cbae0e52a2a8 CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc1b28d-9f34-46b7-a448-61cdde859bab CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf9a4078-37eb-4c3f-845e-de79105565cc CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b2284e-0349-4e6e-aa4a-44e560b3b867 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d688b2e-8cfa-4f7c-9718-b7fe0a8878a1 CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e62bd6c-521a-4fc4-8d80-d82f72bb166a CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdb0e732-3436-4c71-94d4-6b81eb49cd5d CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b2be1e-7929-48eb-9105-d95f3e8ebcaa CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4e71ba3-54b0-483b-ac52-69a7ad33192f CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18f0083-bf96-4cc4-9cb4-e3be1ba618be CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39a4a923-9231-42dc-9559-8efe83359b78 CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ccae11-c6bb-4052-b4e8-6861c76672fc CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba277f16-1ad7-4866-98a8-8210696ebaaf CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a321c1d5-84fd-469b-9c3a-1b21558d8908 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebddbb92-78d1-4e6a-852c-5d359c02a1b2 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9405adb1-567f-43da-882b-e62b73eab30c CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 590085cd-2031-4368-9d6b-ce892e4f0496 CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a36b482-e251-4d89-872d-a0532daca6c6 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d3d2061-16b1-487a-961d-88665e555244 CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92adc1a-4603-4962-99f7-d462ac1760e6 CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c929397-ecd3-4ede-916c-fdde7d37a508 CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3f0fb4-9e71-42e2-b4c0-8e82c494613b CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4cf0061-c3be-417a-8b66-4d4b41d0db0c CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e4f3f5-8797-4790-92bf-c2068efd463e CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9207c3ef-f1a8-49a0-b2b5-8171ab912fce CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328640d0-9d73-4401-9beb-a78ba11501f5 CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a923262a-bffc-4c53-b8eb-c608b829e0f3 CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241c6c42-bb81-4de0-b4fe-b6da5bcd0fba CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4b44962-3a9e-46fc-b9c7-ed3c258af481 CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fdf1c40-4861-4c90-8054-983b578bdfd6 CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30a6c903-50c6-41b9-8962-7e578a3a19a6 CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602a5ecc-b83a-4c50-9fa8-a9eccd305e04 CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34018d53-bcf1-4ef8-9cda-1a2621ce1651 CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c127dba5-7b24-4e0b-a886-2ecae2aeedea CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98e23a88-2942-4a54-be6d-00743608d6cf CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d4e575-9593-4e59-9fbc-9d42cb48b900 CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcb9b950-3fca-4ebb-a07e-e02bf9d87c40 CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2495d46f-2c92-4c60-a38c-24499e5c1df5 CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed7eba56-d4cc-4d4a-baa0-21a580b7db0d CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeb5e3a-ecba-4bf1-aef1-c3a5f002fe9a CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d3f9b16-d379-4aa8-a8dc-071167fe383b CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51aafc03-108a-4c31-86d2-a90c6d6ff1fb CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 626e8b35-4bc6-4a19-85f2-5e20e02304ce CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee06f18b-b10e-4ce8-827e-2f2ec891caba CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fb63e9f-1322-4be5-aafc-82660791caf5 CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9711e14-9f23-47dd-a606-2f0abddfd1a8 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e6e49f0-21c2-4721-aae1-76f3fb45173a CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87828dbe-f340-4645-bb0f-7bcac071189d CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 902f3590-2a32-4c2c-925f-59a8f6ebb8eb CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8af3aa-cd03-4751-983b-9c88b46e983b CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96427a99-dfca-443d-912b-d6be95a6bc06 CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c1befbc-b2d0-49d8-967b-8f7ac7367969 CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e75c92a4-c820-4ba9-9897-fa0631fcc2db CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d803195e-23e8-4944-8cfd-103afed4139a CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38f1ce0a-d828-4986-a27c-a3624dca8f91 CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd1e6c4-835a-472c-8db7-35c06a72cffd CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33ec268d-bef5-4a6e-acde-df357aabb038 CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5986fcb-222a-4030-bd1a-3ffa0efb7ed5 CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7192d0f5-cec0-47b7-80b8-6488ed24da3e CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2a882f-bb3f-4b87-9da0-44fa4298975b CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2657e81c-3041-482d-a6cc-64da4ac44010 CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a42999-9686-444d-b162-41a3495e5160 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 345f0299-7719-4343-9193-ba1b94dd0f01 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa609b67-f1a4-4eea-9499-a6872f2f3f83 CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2282f484-7728-4113-8ad8-fc08789a38da CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa3f7bd-5e1b-4031-8e7b-be01b1366832 CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93dfb8e3-d04f-4668-978a-2088f49f40fa CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ccf34e-212f-4d2c-a3e6-1bcd867cf795 CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfa7dda1-29d1-4a93-b198-61298e8fe647 CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5423398-fb91-4885-bbef-b1ff05d19684 CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5f8021e-9a95-4f0a-84f5-3071c7bc7b09 CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafffab3-ce69-456e-a52c-fc30b00d197b CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd9fcc8a-814f-4d45-aefc-994c46faa838 CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3649b9f3-13a1-4ffc-8178-b86c35530a7c CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddba57e6-b797-4c75-8243-e8146bdff037 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9301d1eb-e422-4371-8fd2-555422c68b1d CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9863fa81-74ff-47ff-9721-5bbf7d23f36e CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b357aa-4a43-44b8-adc4-47c743b97bdb CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a73d10ae-2849-4d23-9f49-b5dee00fbd35 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03128882-de70-4b60-bf99-e4bcc12d0976 CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eeb2cf5-fd77-4dde-bb20-6536486f3e20 CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1a6b23-55b2-4f01-9fc0-92cc48f90a0f CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1a0aff7-9b9d-42bd-8f41-2dba562f1d0c CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be61c96a-e0a3-48c1-8c72-85ecb74684e0 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c3ecaee-1e87-4400-bc92-70dc57b00c81 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec07bbc-1eb4-4c9a-84c6-b3c5b98509b2 CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1c58f5e-ceab-4bf5-a865-2e8fd8bb1be8 CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c929dc3-e938-4efb-a7bd-2aa83b432151 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7a5f2a6-dec0-4d04-8fdf-3d76128e8628 CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e51cff4-3894-4423-b702-b7dd6704e2fe CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd2f2dcb-d394-4655-8c76-63a66c1b61c7 CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3824fc5-5337-4ed2-88af-00fea8cc926a CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b3e0384-a127-4429-99b2-b8843f9c0ef5 CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6047dcec-e821-4666-a617-93562f91b625 CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e2ef004-385b-4b20-be34-c660a593f1a9 CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a9ae37-9873-4a2e-b622-cc8a5ba40cbc CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39764694-3c30-4e6b-992e-91b78adc2c67 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cba5154-3f61-48e3-837f-9d72a3acffb8 CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3902f9d6-b877-4855-ad27-86d142918c79 CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8c88f4-b83c-4e97-9a07-b36fd48d6f22 CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1fb8eed-5fff-47a7-a333-99600b668d88 CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7129a8cb-31cd-4e2b-8324-29d956dcc906 CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 094c1fdd-11a1-4c9d-95d6-74b31c750e4e CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf573520-007f-480f-a540-84e9d97bde5e CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af2e2d9f-8e89-47c0-b951-0d8867ff2ae5 CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e6213a-7c87-4a49-9945-ba7e75685eb1 CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0ec5a64-b6f6-486c-859c-60b0c94fe672 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011c506e-0ad7-4850-bcba-87c6fbbe7e2e CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb1fbd29-acbc-45ff-8c37-cfa4ada493a6 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0375796a-9cad-4cb5-9799-d706855b5afb CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3026a396-de8f-48ef-80fa-c165aaab74c9 CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 824c7489-bd17-4a7e-a1f9-b81295b677c0 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8278f02-d582-46c1-ad46-d56cb13495a9 CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267e469b-86e2-40c5-a041-2c370055a8aa CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96e0eb3c-dd8f-4c83-847a-cb0c31cdba47 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad30088-cfb1-42a3-a7cf-357f59dcbede CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e096af85-b2f9-4518-b062-2f15815bafb7 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948ef3b7-050c-4998-b688-013bbe4ddec9 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5f2b1ea-2ad1-4480-950c-0d7b24f06933 CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ca8ab7-e3ed-490f-a286-1625f0d5f100 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cebf8f7d-c259-4c9c-b1c4-eb686d9bdf9a CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020f9c47-14c6-425a-9cc7-4735f59f12f4 CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen adafb441-3c9f-4679-9f46-912029a8906b CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b82316-04e1-4781-9d40-7e7ed3fc56e9 CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c7371e1-6921-4dd6-bbe3-aa7129239b63 CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854b9b66-a010-4e66-bad2-848cb1ed8955 CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fed9bbe-784f-4680-8540-3554843b0a9f CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89834c7-1c0f-4993-b502-7228b2ab8bcf CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b2ab57a-45fe-4a00-9fc2-66f02acb3cbb CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9b4159-3932-4e88-9017-7384c3fa161d CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c8320de-499f-42ee-a402-d9b082b1101e CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbdd953-0315-4aa1-ad0f-36b2bdc0ab9b CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2888133-dbaa-4f74-aaba-f3e69f2038f8 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5e0cea-1cf8-4c55-93d7-100f851d83c2 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3653fc6d-44b2-48dc-9f50-57dd024e46ad CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b659fbd-0d24-4a5a-a723-02f7b53a19c3 CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be927927-8cf6-4c2f-9cfd-676f0fcca933 CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca46fa6-03da-491a-9c00-23035ed3aa8c CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaad8722-ccb5-46e8-acd9-942b0d99775c CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ff81a1-6667-4ef9-aa6a-d72a0fe5b695 CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa89d167-11b4-4cc2-9e0d-5044d4ce88ba CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0c9a25-7c54-4c95-ae9c-2b3aba3dfffd CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab6c65ca-a740-4823-a4ab-f83ec320174f CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c720174-fcae-4de5-871b-75a4a9bf276b CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a507ee62-486c-4a9f-862c-9f1609fbfeb4 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c16fbd4-4617-40d8-838d-79a904bf3ca0 CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dadc177a-70ea-4803-a2af-04108d452fd5 CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554ac3a6-fe23-4da6-89d3-7104657ea9af CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94bf92de-4cfc-4ae9-8510-73225802a2db CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346ca937-265a-414a-89f2-c8a1dba5ecec CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b93540a4-56d3-49a6-a3f5-9b355f1fb4ce CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39d657a-61e4-402e-835e-de55a37f41c4 CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b383dd8-606e-4a7c-9485-a5124affc300 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f317196-cb67-4a87-a335-4824abece0e0 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd59dc49-de54-47d4-a75c-c128352723e2 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44457fbc-1c7f-4176-b67a-8e1c40fc2f47 CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7863f394-7fcb-40dc-bf4a-d2a58535ece4 CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c8d3dc-fcd2-4290-84d1-9a0292f83cfa CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d2f8fdf-c11b-42a3-993e-084577e1b4f8 CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7f0390-9464-47bb-a376-96e3c8ad660a CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c05c65e1-cf55-49e1-b53c-0f477432c851 CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e36a95-86d1-40d1-8782-65ae961050f7 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fbffb50-5d94-47d3-a5ec-39bba36094ea CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0159f20d-14c7-4478-a3ca-c8c470e908da CAID:CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9e48d7d-1d5f-4662-931d-30b6af21a3a9 CAID:CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe240a0-ebcd-4652-b5f5-482fdb2b8d60 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 915de945-370c-413b-bc39-ad05462a1eb0 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3838badd-ab21-4261-b291-fd2ea159aedc CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53383771-d4ed-40ef-9d16-8a4a9c3cda9c CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479c5dfb-9744-4f73-b12b-ef8484f80f5a CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc1e884e-c379-47b9-88ce-58f08a9108d0 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875a3ed1-6b08-46b8-951f-1437040c17b6 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8e27290-19ec-418a-ab18-6b37ceca96e5 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246ec946-64f5-423d-816e-717a5f8abd76 CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dc0a9be-5dec-4641-b600-218082d9c7b7 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da47624-0820-48b9-8c3f-e9afa05882bb CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 440689d6-d655-4094-b3ed-3b15a2c3c664 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2884e88d-a431-4df3-90a6-70f66bd454b1 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a32243fa-3165-4992-8c6a-f0d0e999ae43 CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f1fea1-a116-4687-841e-3f2b0af8578f CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bcf6a62-ac2a-44b8-8ba1-656f0937d2e0 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65a1748-4dd9-4561-a6f5-502166b345d9 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c51fe41e-71cb-4e02-a711-426e012328e6 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7197734-62a6-4ddd-bae6-6d947c753555 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2623a34d-53a8-47e6-a7b2-380ec682c71f CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e29cb5-1d10-491c-a91a-f4f28b670125 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d33706c-1bbc-4c57-8827-2970e01f7659 CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a223ab-bd5d-426e-afc8-b28e5c0038ab CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bcef598-0005-4b4b-b430-abe4e3a57475 CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f768b88-82c4-4efa-b121-8ff706f10a69 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97f2f951-52a7-4afb-8c1a-9339ad39d4a1 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24faf99f-1acc-4a15-86fd-b48ad1448be6 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5612921-899b-46d0-ab53-63f4b63d819e CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097cd215-3c02-42d0-8a7d-e7d2fdcedeed CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34d38133-ac03-498f-b2fc-e21a56a91820 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997b90f0-7af8-4501-87e7-59c4371af600 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8661cfaf-56f0-4353-a47c-56163145855f CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9686e2b-a16c-43fd-8279-9c4d412aefef CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9c91514-56b9-42d5-8a65-d0318584638f CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554974bf-be7c-43e1-a6ea-4562910801a2 CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58bc9b7e-90f1-4658-ba0d-f876d3642993 CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71515f79-9c5f-4611-9a50-cad8caf046c9 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f6bd157-3392-4584-9d55-0d6237e544e3 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68032d20-ece1-408c-b011-ec2b03b8d8d5 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a19ab3b3-fe24-4118-9a75-ebbc5f840ce1 CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f4f181f-ad84-4524-af09-b75662e8282e CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6557ea03-432b-4179-bc5f-0f7e2604fa37 CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d907c0-c69a-468b-acf9-60a8d2a2c40e CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d1542a0-fcbb-4f0b-a476-8e30fe3f785a CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4033c660-5d76-4753-b8ab-4c02d686e9e9 CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84110d03-8387-447a-b942-78a6bab93dc9 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c86c92f-e85b-4b86-852f-a4b37be99117 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2229989e-5020-4af3-8fcd-2c73a8b2b893 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6786feb-ead0-4b48-82a9-82130cd7f71a CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12a6364b-4521-4d28-a108-460887f240bb CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192972e2-ef4e-4616-9f2d-8506347fa865 CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e4ce84a-48f5-4121-ad8c-39adb83858f4 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8668dc61-2223-475e-9e0f-b7aa145becbd CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19832f71-9505-4862-99c1-030ca07007ae CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577855a9-7996-4468-a295-739733145f0d CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82d8ace0-e725-4276-8254-f1ed460a5c6c CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3387311-6234-496c-a6eb-c23d1b7d01d0 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbc8afae-dd2f-4f65-9d00-0f417d954aba CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5285f6d6-08fd-4bc9-9628-866cdb554181 CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d8142fb-cf04-403e-bca9-00787b29d6c6 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7595b138-3a57-4217-8128-cbba0f09ac5d CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c0a103c-f899-45de-9d9c-294b331a1fcf CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cfc71e-6738-46ab-9ed4-c93e0843ed66 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2467fa7-5936-40bd-a8dd-28f436a77aa5 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbdc221d-35d9-4710-b972-83be957935fa CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30ac188c-f729-4b6e-9bae-6b0c9b0fab1b CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd676a8-887c-4949-9ef3-b231953663ac CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ff134c7-8e92-44a0-9448-83c8c5b4527c CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 361be979-3314-455d-9bd8-625a8d2280e9 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63ceed1c-4936-4fce-b8ea-c7e64ad86529 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30bb55c9-347c-46a8-af6c-4b32dde13cbe CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8af77e72-a60f-4dd1-a8de-15ff6d7fd1ad CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d766ca-56b8-4593-8e38-e2c8fc2fd681 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6a288ec-758b-4c76-ae33-3f5845e9955c CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77720606-d942-418e-8fc8-9696214ee41f CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36c31936-105c-43d6-981b-15be7f538616 CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5ee521-7d03-4cc7-9ebe-0124a781ac7e CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1acb0fd6-ae58-4000-ae18-7061b881fb2f CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2578482c-58f6-403d-86fb-48b60b11059d CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24cf5468-181b-44ca-9818-d7de7b09031b CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d65f0b-e88b-4172-a895-2e78c2add861 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c1669a3-76c5-4209-87aa-3143d1934e4c CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493f3544-bbdb-4f3b-b551-c6aaf932394a CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28dd9738-a610-4b41-975c-286df95bc182 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4f93f2-f5f0-4b5d-be27-c8e79cefbd72 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36b75473-70b1-41de-9a35-53d15abb3412 CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c17af58-5a4f-4835-a2ec-e33f3f13715f CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3dd456a-fccb-4a15-a780-6893872e5b33 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b195654-8808-4542-9950-d97bdf9af676 CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8e89e9a-1aa5-4cfd-b1b2-efc7d9a7935d CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab654854-aa7d-4144-9d12-525f86820ebd CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3c44ced-c553-4903-95a9-346070ceb5c7 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee03b8f3-da56-41ea-98b4-576c2752eab2 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89f99b98-faaf-4bf3-9d86-3984234fbfc2 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd908e67-54f2-4ac4-a501-959373333ac9 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d257e86-8075-4761-996c-368c67c6c4cd CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c5da083-ca8f-4959-81ba-f8a421bf05ca CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fe4bb25-be2d-4fc0-9f42-93c50b228d64 CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ccd750-3237-4ec9-b97b-7d368b24e86f CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b84588ab-084b-41ae-a49e-2129888d462e CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ee4a53-10f8-4916-a6b7-16247b3d0240 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76a005e5-67d6-4f1c-bf08-b1c61ee9ca61 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5985ea-255d-4855-b9de-0882080bc2a4 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fffdeb8d-c96e-4db2-8d6c-83d27746c32d CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c42d90-e441-4122-9a43-09ecf96b8dee CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 124773b5-d12f-4ad8-8865-d5bed015a9f5 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f5871a-1801-47ae-9162-59fe6e1a24f7 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f23f12e-382d-4801-9107-2625236b63fe CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23511dc4-666f-458e-8bbd-aff5b80d342f CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4f5395c-6eb5-4714-b6b7-b0289cb48e5b CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db577147-50d3-40ba-ad63-31511ac97e4d CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64e8ebbc-43ed-483b-9c54-2fab14b6f87c CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907bd76d-c450-4db6-92f3-05771b0d35ae CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 132a9e53-0a7d-45e3-b327-4a191753019e CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e883e482-8b0d-4741-a7a5-ecbf2c2090b6 CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81eed9c8-9224-4213-a9d5-8765cfb08b53 CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7da3a2-daca-43d8-b4aa-b83d81824391 CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f91162df-08a0-47e8-b3fa-138160e1404c CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4acde9a9-7bbe-420b-92e3-2177dee6ae35 CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d8131cb-b6be-40d8-a201-920b35b19e8f CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60224333-5059-46df-8686-2a0c7db3580c CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2edee37-66ee-444b-b8ae-67d89c50084e CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ac63af-d3e2-4a80-98ef-910a2cb9892d CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d4ea444-6c36-4056-8e2b-5d5caf843439 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec28ee08-67d6-4df2-b544-7cfa7b58d74d CLINVAR:258182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a47c6d5-0651-4cc9-9201-2b1326b1c6a8 CLINVAR:258182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18f921c-d86b-4eb5-bc14-e629d8fa5a4f CLINVAR:1130934 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bed6cbd7-74ee-40b5-a5d6-27baf6733839 CLINVAR:1130934 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f71521-08bb-47d0-bf15-6d86a6d90f9a CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 616c0a84-9ddf-4475-9811-37f1c91d40c5 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6346c3-e0ff-4ca7-a223-97ace9493d61 CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6103f46-e1de-46c0-b711-49f729c27d56 CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803573de-c2bc-45f5-a286-ba750e821422 CLINVAR:755769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8008bc78-38a4-49c2-a42f-e1ee71e9f554 CLINVAR:755769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0aab65-9426-4eda-8ec7-396b1edac0a3 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9ce724e-6972-4d86-a221-6ad1ae050ebc CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1531df39-9d1f-4eba-a071-a1861e7bebb4 CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bf9e031-6dfc-4007-8e94-b299a4fc5cf8 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15420c9-e2c4-46fc-9776-be3243f78171 CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 767b3e7e-11c0-4aec-a636-b79a198e16ff CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbd66a4-d982-43d9-a8f3-5275878666c1 CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ada0eb0f-f862-4581-8176-479cd29f9dcf CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12136a81-b33b-4802-978e-56aaaa7254a9 CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb45e78c-8438-466c-8435-cf269c4dd6b5 CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5674f3c5-847a-4d15-938a-47277f86f34a CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af6dc768-ee0f-4c62-b54f-ff0ea61d293a CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2229ae23-ffed-4ae2-9e7f-f423d7d71ed2 CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45562608-c60b-4223-91ab-473890e50a12 CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302b8001-82a7-44c1-a56c-481db443c20f CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e648a01-0321-4a4b-94c9-62ee332b7f89 CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af96d28-eaf6-450b-a7c4-aa87d908bd3b CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dae649f-6274-4ec5-a3c9-e8e7ee88f5f6 CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f47f9a-fc03-4d34-a7bc-05e8eabb3729 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18a64663-a625-4fe4-af8b-d168db6aa1dd CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810edb85-9230-470f-af08-a8cd2b3527ec CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b7e6677-c6e2-42da-8e0c-f0bdd2361487 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80f0cf61-0cf7-4589-909e-c1e351d6eaa6 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5e6ac5a-85c5-41b0-9c8b-bfd59992ec3f CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c061d4-1357-444d-bb40-9c38d8bf3cfb CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3412540-8ba2-48b8-bbf3-13685f4e553f CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fad46bc-9bbf-404c-ab10-9630750c73b5 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6f13959-92a8-4921-91eb-d266d7572b68 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87904b20-34d2-40d5-bbb6-5ba0f3e1826a CLINVAR:1124345 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d30e6ef4-28c2-49a3-9f84-c262dd9b155a CLINVAR:1124345 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de77d156-89cd-49a1-932f-7d42b4ce74e6 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 092c2e5c-3b45-4edb-a325-3bd3aa9d66cf CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29902a5-16c5-4294-8821-21a198a97cf1 CLINVAR:1099856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec6e1c44-1946-4dd7-bb66-39c810a85cdc CLINVAR:1099856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228195b0-910c-4095-be38-ee37e9e1fe30 CLINVAR:1088939 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 310b1b73-20de-455e-9aa8-94f7a06f93be CLINVAR:1088939 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f9f54a-a0fa-4c2f-88ad-7c196592da69 CLINVAR:1144056 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84f92067-1879-4368-87d8-6c48ec74a3f0 CLINVAR:1144056 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e77f88-d8c1-4d6e-bf36-96771087bc4d CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23e81533-1411-4bf8-aa28-2ab3490e90a5 CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da496845-a072-4283-93ff-fed13f2f551e CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25a22378-fae7-4ea2-a46f-a68f57e1acf6 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d269356-a545-473e-ba91-112906520817 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fe4e8a8-bea1-4a5e-a22f-ca0ff910c530 CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d9c0ca-c380-4b7e-a0bc-ef06b0d51226 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5844b743-b6ab-430a-992e-f2849c06a8c0 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc0b0ab-89fc-44bb-af03-d5e5acb28d0d CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51b3702e-b39b-4d99-83b6-9ace5f7bbd1d CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5f0fbc-a020-47e2-a551-43b67dd96697 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd4d0956-1e81-4e33-8474-833dbf828802 CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c18b449-75c6-4bfb-a89a-bca92c453f40 CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbab2923-0f65-4ab9-b195-0a5222172003 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955e74ab-75c1-49be-a014-de70398c8185 CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bede2ea-c271-45ae-926d-85e51053c2f3 CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b5851d-314e-4915-a05a-069ba00ab6c0 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b20e72a-bd07-4322-8dac-5506f7c43462 CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a6c652d-4a76-4536-81e8-f46bf4843453 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 966468ae-61fb-43b2-bed1-364c76ac7451 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5e9e90-39a6-4dee-87b1-a79ef8bccf6b CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 826258d6-e29f-4050-b353-aeeb56662523 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795ef377-a4d3-4db3-a888-56245a48c520 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38c7cf7d-93fe-4f6b-a494-1387d0436781 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67eca601-152e-498c-9a9a-0d86fc264ce6 CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c91bfa67-1132-45fd-8a37-786381ee2074 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120e48a1-5f48-4675-a75b-e0f4c6659204 CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc24ad3d-f7ec-491d-8b08-4930d9c820b7 CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2801070c-d36b-4951-8007-696c9cbe74e1 CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7028b7ac-09f3-4605-8a0c-dac97d223d20 CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb8265a-2c19-41f7-a616-fe58f4ea8a6f CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11ed1670-9431-4e1c-88e5-23a03684004b CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a871c100-98d1-487f-a58f-5bf4ef189d94 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f245cd98-6bf2-4070-8769-cb85308fce20 CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de35417c-5f7a-4b21-8d82-d11d4e09002a CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce86915a-e339-4263-be29-7960cf07c4f5 CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce15fbd9-8673-46e5-8a77-7e2dff659c5f CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 899c9b21-2281-476c-a4cb-e2700d41f5fc CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481b7395-0f39-41b8-bb11-a40b57fcd029 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a825271-73e4-44ff-a655-c4c196bf901a CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c9f714-922b-4b3d-9474-b34a814ac7a1 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa5aa1a2-ddec-407f-aa38-f64a94207d34 CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129c23cf-c0f1-4c93-8f03-4636f45da1c6 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2aa4d0-f609-492a-9e89-839ca1335116 CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1368b568-1c07-435b-a1dc-6d0d5e34b2c4 CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86b43d25-1567-4a63-8839-9465388d8a18 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b538ea8-9227-4a72-b909-43314ee43b97 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80106dd8-c4f0-49fc-8955-f07624eec7db CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0118e4ae-a7fe-4167-92ba-f0ebb918106c CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f8bbe0a-94ad-4665-a362-17479a892fe7 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b756c428-e786-4b66-a2ac-e84abffefc8d CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9200b061-ba8e-49cf-a399-55ea30f9dd8d CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70544b0-d6a8-45ec-b6dd-e6a31a2c32b2 CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86f11de8-cb93-4dad-a428-c286ca49d39b CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79a4549-c452-49e0-92b3-12509303db60 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7512e4ca-4354-480e-929c-236b49989b77 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70fbf94-7160-4167-8f26-3fc1a6dbcca4 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e6972af-6524-442f-8da5-76ecee0395e3 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c779917f-e911-4a72-aa38-b5bef85e8805 CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37cd07d9-d199-4b04-aade-2ea65379320f CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0051494e-bf06-49d3-9c52-94ac6ea2deb1 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4385fec-0a22-4577-9492-7abfed52457b CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c15b0e-c133-4bb4-9db1-0c402af73cda CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 231c7df0-a441-4095-933f-8622e8c83295 CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda98126-c6a9-434f-94ec-d1273f846ccb CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f795147-e06b-41a8-9567-61e98693bcfe CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900800c8-cb97-4dfa-94ae-9fa6800d7476 CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff94f8a2-bc4e-47c6-83b6-94759e0524b6 CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad4ffc4-7a4b-4377-b79b-448edc810f98 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37df9949-5793-4a97-8ec3-8b9706268f91 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7675ca09-63a0-42b9-8c1e-c3578360b82a CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffea3e88-a816-4981-b00b-40f6c078fef5 CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bac846-138c-4e18-b3b8-ed3414f67754 CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71f24446-0305-40b0-851d-a214337f2a4b CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab44a00-ddc4-4f4b-b3d5-050cae5fa9bf CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5be1a041-f82a-4ea2-98de-efc688758e35 CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4f4f51-f196-4fc2-983b-ada680f03693 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0832a3e8-493e-42b0-a4da-b1bdd75656ce CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bca5b1-1adf-41ed-b1b4-faf9f2d46b99 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17990039-f9a7-4b89-b197-056a03100777 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6130e77-20f8-47c6-a46e-b58af92e970c CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91c08e92-2e2b-4706-b052-f769f5b88854 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d35ba46-55d6-4fc5-a227-aba816afb843 CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a0c9436-cfe2-4981-bc1d-993f1b1fc34a CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2bffad-168f-466e-b86c-4544f2fc5475 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01f31181-6fd0-4938-abb2-2bb01b6ac41f CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dacc1cd0-85e3-402a-a050-270b2998c7c4 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be8e2926-bc96-4a54-8b95-2e894537d178 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402fb302-1031-4c32-83a0-0026f00d9b2f CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4f078db-f835-43af-bedb-605a2653b3a5 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fd2776-d1dc-4ab0-8502-68c630de4bc8 CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16d27048-fcd3-435f-8596-6e72b2edb529 CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9911816b-dd46-443b-ab45-17c0b27234a0 CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a279811-e38f-4e5b-b8b9-f08ede32df12 CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c1a47b-9718-41bd-84b5-66d9c96a5f3d CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 975cbc7b-6181-4260-a00a-b5618130c6af CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a802afe-9a55-404e-a395-c8404c572e67 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 377f422f-2152-4a5e-a73a-cd73297251dd CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbeccc5-69a8-4bf2-8014-5bfaa47e0115 CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a075708-e7f4-457d-8873-1d16b23b648f CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078d076c-32dc-4a07-b847-4930a430348e CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d36c35e2-309d-4ca9-9e2b-edb60468b408 CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e640427b-0730-471a-8b80-e9567fb369cf CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd76127c-c4b4-41c3-95b9-f5650cd308b7 CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e88cc2-6268-4790-9413-0122311d46a6 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5265baf3-ef40-47a9-a2b6-696c89805548 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4723abd3-0cb6-4198-90a5-3a0c3ced257f CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 947b365d-91a2-4107-acb6-4f5dfa6ece6d CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a41e61-e696-4500-b3f5-6cbbc92ac181 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72397b55-bcbb-4dcf-84d1-72b9cc94a2da CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c02d72-073a-4270-9726-ce7c273521e0 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4eee89e6-07c1-4543-b56f-940fdde1866c CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8017d5-aa6b-4f86-8e65-5d9b575094a1 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f20a0a0-ac24-45fc-a6a3-cad1da082413 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e056f5-764f-4c23-9f73-545facfb85b7 CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4496ecc3-1ec8-4cab-b53e-199441f119e7 CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a523a96b-7e1e-4fda-8a30-0b5390a65a72 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d0f8316-8943-40c5-a07e-766074da90c1 CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e42098-df48-4918-81b8-fe4d56d742eb CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3a1edfb-e853-4881-bdc2-c75b4ee23474 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd10b9b4-6217-4e64-a92c-c520fd6e850a CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53b2fcfa-f2b0-45c7-8467-5d9d455fcc18 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a5fd98-62ed-40b4-940c-b98e4529216f CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6c81dc5-22a7-40a8-a450-7c29466d2e15 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7302c927-9402-428a-84b5-26102323e5ca CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 190aba06-7df6-4026-9364-5ee3070ecc82 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbc3b25-f3a8-4455-a619-c3233495c7ed CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccfe5793-6331-4d0b-b92c-07c678b45bd2 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86d781b-805c-4829-85eb-826b4cc56eef CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 634ed296-97a9-4147-a6bb-dcf175024b5d CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c15dbe6-9b70-4871-b609-df2e8b68c34e CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1436b483-ad09-44e3-a96a-b449dd5cd795 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad49615d-0527-4424-aace-db015ecc1ea2 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ada4b1dc-3fdf-4435-b181-fb3e0b5333bb CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4e7ec2-444f-4b04-a518-55035d226c01 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b96b5ef-6428-4091-aa5f-97ca91504fcd CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a826ae3-41f3-4527-8048-59aaf0aac68d CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0975d3e-91b9-45b0-8c10-eb82f6b2dd45 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a254c019-d067-4794-9443-f3e64fdfdda2 CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cd55a20-80e8-4229-a860-d0f3ff3a3ce6 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415c1f4c-e1a9-45b0-8f4d-8acc180d8c26 CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd28765b-a6ad-4597-9c3d-fd8f904a0a89 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e43b8707-7fff-451e-8bd7-fecd2c4b13ec CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ce9f37f-5bc5-4291-a242-8aebc088b255 CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2486d19-5930-478a-b537-07d0dafc76a5 CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00669e5c-f2e2-4810-b9c9-25ef5ef9e889 CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ffb8d4-45a9-4897-84a4-20689aba5005 CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d36c2ee-34ae-4b0c-bad5-eb4340e5a359 CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3b4257-102f-4807-8aeb-edd5c592a599 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3c0c5a7-4b80-42e3-808e-1b66c16a5abf CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464958d1-93a6-4535-a368-8aaa4b2b5bd9 CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05410c75-dfec-40f1-90e1-a8c96858c167 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b42059-e2a7-4db9-9780-d2430b5a5643 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 642ca3b6-65e3-4881-9fb5-d987f1c8bf33 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404e46f2-f174-415e-b3e4-c2e70eff384d CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22fb1384-3333-4dc2-a7fa-2964ca2ff2ce CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b4ccd8-5af7-4fdb-adab-eae49b2d2e5f CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c02d429a-3bcd-4382-983c-c840d2d9eff7 CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb37247-ebc1-4472-a910-1652e4307bad CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a30f4ca-6621-43bc-b3f5-ba76fa0e6a16 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0eb3f6-9caf-4489-8481-b4256616acaf CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8151e94-c41c-4d24-ac5f-f53fecda8280 CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afb3eb3-d819-4a14-85b5-43f7860713a6 CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f65986f1-e4e4-40b9-9bd7-6b531fa54947 CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c19c3a-13d4-4c54-ad51-74eee3b1bbc2 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32a9bea3-0599-4789-803a-78721b45be2c CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13873b6-e22c-4ca1-b285-b73baf1992cd CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0e4e247-80f1-4de2-bfd3-b82c624fa75a CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cd8abb-782e-4b83-bec5-baf2b78543c8 CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed637025-80db-4965-bbb8-4671418ac160 CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb62014-8740-481d-8e87-57337840e09f CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f768f50a-a2d3-413e-9b99-111d6ed3b7e6 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c337bf4-42d8-478f-9d2f-d99e4509093c CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68204084-7c4b-4a0d-8916-eb8d193e5446 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fb6cee-697b-4a27-9742-71824a3f8350 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbb1eaff-42ad-4706-8c8c-bfa0a80a1403 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21da3403-ab99-443c-ac85-db969cbcb13e CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c7a8a5e-cfe7-41fa-a078-4622bd426529 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3219c7d-87ec-4413-8647-944770cafb8c CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41441ec6-48ac-42c8-991e-0e74781bf7c3 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3618fa-7906-4758-91f6-4c3b465cf4b5 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7821b7e-f554-4e72-929a-388478df56f3 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82f1993-2cda-4760-9436-2e400a60ae64 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3eb3beb6-fcd4-411b-b388-3311f205972f CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77822e90-57af-4b9b-a338-af81c27f3f0c CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f01f0b3d-f818-4a22-9e75-3b3d2fa73d75 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6dac70e-1d41-4ea7-a931-1ab25d317347 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1caa826-2be0-44d4-8c02-2af7ae44bdc5 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f31461f-6e33-4614-bcd3-f72818d6b228 CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35e087cd-6c8d-46d5-b86e-1a7852987e03 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a078bcd8-3c0e-4717-8276-21cc585cbeeb CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2601ef25-b823-4e2f-b18a-0c954ba5c5e9 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888fee7d-81ac-48d3-b96a-152b43e70f5d CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 826e5e0f-1952-4ab4-b8b1-abfbea0929b3 CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f19f60-e7d1-4332-bb3e-71d45f59f093 CAID:CA386964305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c991b752-9b38-41a5-85db-2c2af745e6e9 CAID:CA386964305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b901edd3-80a5-4d85-9e7d-674466dab4f5 CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen babdbad8-cc64-4c22-a8ec-848f9a0f0c30 CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fe6f8e-2b72-436b-991f-bf33d642e799 CAID:CA386964418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e15a1fa4-0159-4d75-b606-10d372f2d4d5 CAID:CA386964418 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1515da78-5d09-4b29-90f4-338627473230 CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee082b38-d418-4363-9e92-f776d4dc8a96 CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6d272b-6efa-4060-a126-8b8ca15b0280 CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0304e7ff-716d-4802-a611-54e5cd586019 CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4136dbbd-9bf0-49ed-998d-702306d56287 CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0e1bca-9603-41cc-b5ab-e872ae33c2fc CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89fdf61c-cb63-4242-a717-093317e3c8bf CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d1a40bd-8d3b-4c36-b90c-18e61e7999a6 CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6962082-bed9-4461-8359-9c05e2ab5146 CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c7f362d-2ea9-41fe-958d-9180befb252a CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbd0994-a549-4470-bec7-f439b83e263f CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bee32735-4c5d-401c-85b3-a3d620791e9b CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461da59e-4adc-46ff-93d2-abbd5edc9711 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a666ad9-2c35-4830-9402-9371b2d66def CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e041893-82f8-4f26-bfc8-a8427e032c1f CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfadca59-5bf7-4c02-a269-f8957b96099a CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423fdb8f-baea-4aa0-9511-1d2ec10ce62b CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b6c5975-f00b-4f87-970b-42f213113a84 CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0345ff75-db91-42df-afb9-9debf91b9189 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2eab3f49-376d-4845-8f9c-52c861f569c7 CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed24265-b7c8-44ac-bc02-fc1f7d7bccb1 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41f68ee2-44bf-40d9-baf5-aca4bec54fd5 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835ae38d-164a-4a0f-ac9d-3921c42f6d70 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56c87eed-69f2-4348-93ab-067add8f63c2 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 079b6e0d-dbad-4625-9d11-3ea7e7cdfefe CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20b08fb0-b1d1-425f-a030-99d342894429 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9625691f-16ba-4cfd-ab36-a61198b25351 CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0400160b-d54e-484d-8491-d50935503f7d CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa34cefb-430f-48be-b5ec-62fc8875623e CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6f8affd-ed58-4d3e-87e2-4e7c4774f9e5 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48dda1b-0480-46f4-9101-a96ea4c79eef CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2355327-0ae3-4b38-846f-0ae51f94a9ba CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dde8ef9-1239-48dc-91f4-49f2f2b46221 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d954352a-b1b7-4956-ab1c-d4e862230fc0 CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bb345d-a0db-44c9-9e55-c5f0d8995c92 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a6bb672-9fa0-4290-83c3-b014bc855f24 CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab997cf-9e27-438e-b95d-81b280eaa6ad CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2772213-927e-45d1-8cfa-7cfd50d9d513 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af883a7b-d143-45ba-868c-f41d4ee5aaa9 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6134e08-6674-45b0-9420-84d64dc2d296 CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54c99d8-178b-4671-8ec7-4f049269daf0 CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c6e1694-dd59-4f9a-8747-b40aa1c3fca1 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1267250e-2e50-433e-9c21-f36b0f086255 CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d8c7714-c982-457a-856e-da9e09f61a30 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec600b0-4877-4fe6-ad89-fc5a1f278f1d CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 933e2a06-605d-4496-94a0-f588f370ea09 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba6d857-6189-43f3-8ba5-a7fa42fe682f CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9be332ef-dd67-4808-b208-aa5fb3ef7531 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727fb86b-d168-4d36-8b66-db348e9175a9 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 918e7114-3af5-4489-b3d8-506a3e08df7f CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b93e34-0ae9-4f3f-9e7c-96585d41ca87 CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a047eedf-91d5-41f0-85e9-4d4e8fe130f1 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf264b52-cb30-429d-8825-bb4f67ddc1ef CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4b8e466-411e-470e-a3cb-4fdad6a6f45e CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c5fd0c-69b8-45da-abe6-85f4d36f6dc9 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64b024db-b82a-46c4-9618-7d7d8e2e9f49 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bfc87a-8b4a-4305-a52d-eb2ff7555c4a CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79ba6737-dc9b-49b9-8e2c-3be14f0b29ba CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015b2e41-e902-424e-b6e0-deff32d4da6a CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8671acec-0275-4dd7-ac5c-a7948d23ad9f CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f5a738-833c-4240-b795-7b2934c495de CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 772b92d9-d955-483b-b1e3-1b3fdd60bfbf CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8332c991-8f24-423c-88de-a85c3bd31440 CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbd0d42e-7a20-4b26-aa4b-5d61d3974e58 CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548dbe35-8395-4a6e-bbb1-40f7fe1d58ac CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bb144bd-61a9-4998-a3fc-40b15381aaad CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e071b64-5d00-4220-a7ac-0acc4ccef345 CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2be9a377-bfe4-455a-8b37-bc154b3138d6 CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecd733d-8499-4887-90c6-e5994c7fd28d CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4124d64b-d780-4672-b729-63aea5603bf7 CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87346c8-003d-457a-8076-c15254dea347 CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c183377-8d87-49a3-8c4a-06a9babf2842 CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6730aa9f-d6ea-4975-8591-35c42cf79923 CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 434f2f4f-7a22-4a84-b36a-50f13e55376a CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6dd7a05-9dcd-4148-a718-fdbb60099a86 CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b427fdb-ac56-4bb1-a231-056c1770e854 CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab71e2d7-1bff-40b0-a253-83a16cbb97d6 CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dc85cad-cb78-4361-9161-a3472889dadb CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6fc6b7-b80c-46c2-88c7-29e4d9b5bef8 CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0efe777b-dd49-4ba7-a102-41f5c4f171e2 CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7935e7-12f8-497c-af4e-3f1f7b8ddc40 CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70d8793c-801c-4cc0-a825-5490c157a99d CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f00d6c4-f6ef-4124-831f-3317dae92965 CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a75f074-3e69-4470-bf5f-c40d99e80b65 CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc809851-f4e3-4ac3-8f48-a28aa4680f66 CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18592919-4fe2-45eb-854b-53e621c1c382 CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534e4e0e-0fd7-4f9e-b17e-4674727ad5d4 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4187ee43-3bda-4cb3-a4b7-52d50ad96f2b CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ddd33a-d792-4eee-922e-457a019b9e99 CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3080fc9e-d724-4065-93a0-09324c4d57b0 CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e96aad5-d66f-4042-ae1e-7c18d9cabcd2 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42a729b5-d499-4d92-9619-345d318209fc CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e5cc8c-c17a-44b7-be7b-371447d6354c CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e9ef36e-6717-4424-a896-b2ea303e44b7 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2b32e2-164e-4b61-8a3d-481c9776ec1f CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 831e7efb-c60e-42a1-a658-1c0c0327de03 CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5366dfe0-b304-4dee-b53c-230b14404c30 CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 415d93e5-ef65-4409-b111-fbe5dda87654 CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b04164-46ec-4929-93c8-3a81532a3992 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7365a824-4fab-44c9-a42e-888ee72f4a1c CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5134551f-f95a-4446-9741-5ecf233162bf CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a221dace-a413-475d-b108-9f12a7dbe45c CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dda7605-b502-4546-97b0-0a1a51852f8c CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8946b674-e47f-4646-bb99-0a30b0b74cdc CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa1628a-ae21-4ef0-ae98-1782cfac30d2 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae86741b-e97c-4801-a994-6bee28d3a4ea CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f084bb3e-f37c-4854-b24c-a90321f6c160 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3516886d-1b34-4983-b2ea-d7db1130daa0 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ce1f49-f131-4ab9-925e-d75ddf805900 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2731c6fd-3eb0-4d26-b633-3df6df00df5d CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f889cd4-8bde-4ff1-9e61-aa41a98bc066 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45f7d349-e73b-4f23-b3bc-0d88f495f6ec CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed48b0d-1456-4d2a-a2f1-8db942ef9286 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51ecfdee-f142-4198-9ce0-815272cd13ac CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1f0853-1a8b-4b98-9fa8-ffaef4ae53e9 CLINVAR:133026 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff8d610e-0e5b-40c9-ae1c-feb7d35d1b27 CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb27b2e-b11b-4dcd-8bc2-5e40de652406 CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27a1eb48-8462-428d-9611-c4dacca208cf CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc92fe55-5b27-42f9-b00a-663f3bc73ec1 CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6406d986-7600-41f2-ae57-90731581ad76 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17f3723-4082-45f7-bfe5-7bebe11b2a54 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d413cbc-48a4-4791-825c-d42a42973592 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98287602-6018-4aad-bd98-204372f58b29 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5b6bac2-a900-46b0-ac35-8d2454bcbe39 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b6248b-89b9-44e1-9030-15b8d3fba3a0 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f87e09f-5316-4ee3-aec0-7bcd3348552a CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b439b8c6-d7c6-4d9d-9afe-f8d632cc6396 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 967f5e51-590d-4c2c-9725-361bb11adcfa CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afb4a1b-82ae-4d06-b850-d369ba0081d3 CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 098fcc62-f707-4a0f-8a10-184c743d169f CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cd913b-5b4d-4fc4-b5a9-edcbe603c636 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61757e78-15d6-4dfe-a8f4-92bd24dfebd0 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6861782a-91b0-43a7-a8fa-c9ed55888a22 CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19c38186-79c9-4225-994b-35f4e74ef4ef CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6013ada4-fd21-48c5-9ac1-c968fe00b467 CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1cb2959-686f-4ca6-96d2-51370def3683 CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bba8826-66fd-4c91-812c-4f36abf4cc60 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 594b05e8-83cf-441d-973b-3ea7f8a183f5 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e28de9-b4aa-4d0d-9537-2affb0f14d24 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53b620d3-845a-45de-8c15-b58c70cd43be CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa7a5fb-737c-4418-9b11-0c1a70de4a0c CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a2739c3-1a12-493f-9b99-e6214511c8a1 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e0ddd1-2b16-4909-baef-1d053d806230 CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f12460b-d481-4682-8263-b7552adb3b9e CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc66913-1491-4ef9-8284-711ce85b1d4e CLINVAR:188786 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3d920a6-12d9-4d8a-a915-4e4d6f740f0e CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ab6407-d9de-4f82-a0bb-8644492f7072 CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35cf0146-01f8-4f04-ad51-7894fc92c546 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba769c66-b3b6-49a2-844e-e749efa9af03 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 883fd2fe-5bfa-49c7-8482-a571425893a3 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99c57c7-cf7c-4709-bc85-57540a7f6a5a CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17ea9a2a-9aea-410a-9fc7-1e023b15ff2b CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b355b6dd-608c-4b3b-a37f-456921a28883 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6888f7b-a10a-478c-b2eb-0f98b585d186 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4927a91c-5a96-4a52-8728-1f6e1c2bdefc CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae5899b7-6a30-41a2-941a-6bbc2d503487 CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf1b039-94b3-4f7f-8cac-6db974351048 CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3396839a-e581-4130-b618-6841abf8991d CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44de6568-618a-48a2-9c96-bd4ba6a5cb42 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b74cc27-e3f6-409d-8452-e7752c39b5f9 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb27abd9-275d-490e-9975-35b375eaecc9 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5d3d3eb-e4c3-4a1f-97e4-39906e70ffa6 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb841ed-914e-4015-874c-27bb87ebec73 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 438b2535-ec99-431a-83d3-0a4f0f0119c9 CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6631b432-eda7-4b44-a72f-842061f7635b CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6141d37-7662-4042-bbc5-9e6c5970594b CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021de7dc-a083-40c6-b398-371ad145782b CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a660ceb-40f3-439c-abd8-0a1f59fcf624 CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c800efd-7407-4db6-afa5-a80583625045 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f06cf10-72ab-4aaa-adbd-58ec58391fa3 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123a2aec-7ac7-4e3d-9576-be85534cec92 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0394624-9811-446f-8307-62a1e4cfd813 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8af829-2595-4e86-8202-43b9b5ce41e9 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35130d83-ba44-4c27-ac82-f0bb6ddf340e CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cca0fc-474c-4571-a2d8-f96d22ffe0e8 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e5f2e65-bb74-4c4c-ad49-ff462a9eea1e CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460305dd-1145-4908-b153-fd67230cd0bb CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c66c349e-b81e-4e91-aade-140104ecc65e CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8928a4-4bbc-4c80-bf82-862834acc506 CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21d4c5c7-fb40-485b-97af-ca317330528b CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67430df2-60aa-404d-8806-cf967b29d19b CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2418cdc-ebe0-4cda-ad33-0a6672c1073e CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8177e453-890f-40c2-8fa7-6f0882628c70 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3067b56-d19d-4119-be93-7555581d9570 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aed769d-44e4-4df8-8b0f-5d5c1471369b CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff09b809-a74b-49c7-a790-954bb87b391f CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c7080d-1df7-4e86-bae0-08be34d3a68e CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 092d3829-5bae-4660-98fe-661bd95ecc38 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e998d7-6fdb-4055-bb24-1a0a2ad5ffd4 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 498e72db-9270-4e80-8b78-d2646ce74219 CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f290db5c-fb31-4437-b430-7704f24e6712 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen daa8eab5-bbc2-4836-8067-6655490eb169 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b6e77f-7d5b-429b-9a73-d4e7d001d782 CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3311795-1e2b-46bf-a3c2-3a896618619f CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139764e6-c6a2-4709-9fbf-0201bb3096e8 CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1eb7eb0-62d9-48ef-84ec-bc5be5c77435 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593bc736-2fe3-4874-a3b5-4e0d3e885a06 CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee6e8ffb-6df7-46ce-bf49-6042dd0bbbb5 CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0042dcb-a648-4efa-b9fa-e1670e8f8373 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b7cf4e5-d02e-4343-a97e-4cd1ea5cfab8 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714caeb7-35b1-45ef-8183-4e33665b1237 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ad98ef7-4582-4e8b-b1ff-1dfaba196e6d CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad79eae5-9817-405e-9e2e-275fe5864500 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c6e7b08-bdf7-45fd-ba21-b8f76b281ba7 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b262308-e678-4864-890e-5c1490719da9 CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38e4737d-6e0c-4b88-9fc0-58bc91035d33 CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b877cba9-7466-4ca2-81f4-1966de82aacc CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 237baf1e-c728-47e4-9665-b4b2e14703ea CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8de83c-ab8c-4faf-9960-59eca3de2eb4 CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32a3856e-998b-42f9-8e4f-f21dc2d27214 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decb44b6-05e1-49ee-9f0d-8ed1b77e6fd1 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be5026cf-dc8f-415e-9479-48a6156bbbad CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e6a2cc-272e-400e-a1bc-a8b93d692a17 CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bce5558-bc42-48b9-836e-e6f176fe035e CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d379371-40ad-4c79-b264-01ff0fb1252f CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb6107fb-3df5-4341-9523-deeab2bf5d49 CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458f0760-5d0f-4da0-a60d-9a6058cfc029 CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49743622-9fc4-447e-8ee3-946104519fdd CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda7d5b9-0120-4286-bfe9-091c59c70bc7 CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f62e5d-38dd-4737-885d-c5e45f437f5e CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89d55f1-3a66-4f5e-bd01-266f1b96aef1 CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bece5f0d-69b1-4215-9d1b-c64bed4ba60c CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1275811-0535-43f4-9b33-17cb49dab1bf CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aefed53-cf15-4bfb-b3a1-01de25e1ac02 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771afdd3-238f-45fb-8b82-aea8fb16f143 CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e80faff-dedd-4428-8d9b-c1dffa3e2e92 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786c0a7b-8e70-4c26-9204-f129a2abe47e CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 908d2b95-707b-4bcc-b46e-f3d40505daf4 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7206d7f3-c77e-42d5-894a-8146cf8085cf CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffc01b60-1d07-46d2-ae31-cd62ce8575ab CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a1ea9a-0549-4d81-ad26-4a6b630b8372 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 968a44fd-23a1-42a0-b48a-8af76d05c150 CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b6d4ca-9809-4912-bdf7-6f16caf92aa3 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b1d36a2-b6d7-4e1f-a747-a3d6a815ca2e CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb11adbd-c947-4df9-8001-ba6237b04f05 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b1b6eff-bf93-4ce7-b29d-047472c761e1 CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0494e6a0-ecba-46cc-ab9e-1879313061f6 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05f6521e-bc52-4274-927d-e5de70ac45ad CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e6e740-5a65-439f-9519-0014bd74e04c CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95268980-14d8-4eb7-a23d-5530b511433c CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232fbf05-694f-4dc3-a367-bdaa8e0c7c8c CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4071a12-7839-4c7e-87ce-1666a7aa6825 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12804e77-be48-4380-8b02-0561399e9a2c CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41780dd8-8fef-4054-b238-c204b60e81cd CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2024fd7-3ad1-49ee-97a6-5117f61449c6 CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6732652-48d0-4cd6-bd88-7c877c472199 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d84914-3013-48aa-863f-fa6537201747 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46eadfb9-6238-4cab-8d30-15a3d97cd712 CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08af27f8-2aa2-48c0-8d25-981be68ae813 CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 671f25c1-d63c-40f7-b39d-9f371a048a0e CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f0dc28-7601-4981-be9e-a4089f85097a CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5436ffb-d9f0-439d-bd45-660bd14676aa CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8618f3-5509-4bef-9a78-14fa6e51ff90 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47836164-43f6-464b-a0f5-d04f34a28464 CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64af498a-d824-455c-9026-aebdd9f59d01 CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d96407b3-afd2-4fb0-8894-ec9aa14ed86b CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164bcb3c-8fde-4df0-a9a2-1ffdf4fdc346 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4093a34b-d727-4964-ad7c-b615652d92ef CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a60915-e574-4c43-9b46-277e1f2cbddb CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f5c6587-0359-4ac2-8ca7-b4a6dd81a224 CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226bb55a-68dd-4947-b451-4246e0ce0bd9 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f6c8df7-70ff-430e-891f-10c186c91a77 CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33fd99d-72a0-44f3-a9a7-3af5ab0a15cf CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3a5c556-9807-4620-b93b-58e3dc87c53c CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d859f6-6fe8-47b4-af75-51fb19b7a3ec CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eecda61e-6448-4b7a-be59-fdb8859bcb39 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdaef86-ddea-49ba-a0b7-6455c82117a9 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7561d0e-86ad-4bef-b193-145d7804de79 CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c159e97-7734-407e-be85-0fd2f2ce3101 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 995fad7b-9a26-4cff-ac5e-b2f845055717 CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20475a03-3448-4bbe-8155-8c02a8fc384e CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3c99693-7976-4a0e-bd8a-8b906a3108fc CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2fb1c6-84c1-416b-aa48-a4d25eb2a9ad CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d698d8cc-0d54-4250-a57f-83e8326e99ba CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6a683b-b5e5-42a0-9a57-577b127a9e2e CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba132bc2-4701-45de-9d1f-39170e462880 CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bac95f-c783-4f0a-8477-f4edf20568a3 CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f89e784-767e-4fd6-a420-9ab2658bf74d CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8094ca6-e66e-476e-831e-0acb7974ffca CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 288e621b-dc03-4943-bc0c-a1c8b3a02f1a CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c350f8-13e0-4f09-b54b-8ae75e083e9d CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90d24fbf-f71f-4696-b3c5-3068d083e63f CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c0dbfd-7d21-4ed5-b344-dfb599793557 CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d1c924f-8057-4f84-8fd4-9bd0fed6d81b CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb40edc-0997-4112-8639-8dca07a2261d CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2a2fc9c-0ee6-44b7-bba2-e3cbc2ff9738 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6171a586-ef2d-4317-904a-fe9df6632983 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca81b3a0-f6ee-4c0d-ab4c-83b8978d2373 CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff13435-5fc0-4ea9-8c32-c9245b887589 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aeb5c209-f35c-4de1-a2a6-94c4187868db CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bdf67c-5bed-499b-9163-86240888e88f CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe3fc339-06ea-46f9-bb36-d9a0d96cc1ba CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbbb54d-2be6-4ef4-8db9-ca3a44d69d90 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89e31aca-a89a-4f33-8e42-b78908248698 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670670f8-9afa-48ae-9791-097469f9f9b5 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0863bd91-edca-4e34-b44a-43777206eb98 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a40a460-efef-47e0-ae13-36e0c5683b20 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2485f21d-dee3-49e8-a891-04a9ff07a4f9 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657fd04a-7353-45de-bf8d-7dd98062d6e8 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76af830c-bea9-4a15-ad74-7c6b04a70fc5 CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b102021b-a347-4fca-aa1d-a8e2f6334aa2 CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16222c03-da77-400d-aab6-c416b6077b22 CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb07c335-4d79-41c9-b97c-9b186b0a6c4e CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf120163-9fab-45b6-9fe8-1b7c973065cd CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c236b7-b1b5-423c-b337-16f40cc2850e CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 227e7b0d-8273-4703-b880-4da3c344e906 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d422b2-54ab-4def-9df5-63b502167cf2 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac9b7870-2273-4da2-b7cc-016a8d81b3d9 CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf504b8a-c772-43ac-b69a-01c8af4e0c1d CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6260eb3e-421f-4c07-b560-bba7e99785a8 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114d8304-40ca-494d-be6a-e2ec4ccbf570 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 402435c4-f18d-442c-9ab2-e758dc52bee0 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05d2e57-40fa-4263-855d-4695552775b2 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen faea54c4-90dd-4b2f-9ccf-3a6b42501751 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f51241c-a4ab-4af8-aea6-1ea2a1215eee CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81a9c563-2817-40bd-beb3-51ff31f57a5d CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4f362d-9d6f-49d1-968c-d0d4ad167c23 CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb5beb06-39a4-41d7-9305-b918e0e675d4 CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba441b1c-92cb-468b-8376-ba3dfc5abba6 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff37f0d5-38d0-4a53-852b-87eecbaa7b29 CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e239948f-5796-43c9-a288-2d5863a256a7 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 077d381e-1aa9-492f-b824-df66f030c1e1 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a363b6-0a94-49f3-83cf-5cbe240c00dc CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67ee6c34-b36c-430b-9706-72e002e88246 CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d610602-042c-4be2-8927-94d0a969bbce CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da9a60c0-738b-4c70-89a0-092e072db555 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f060015-e033-4556-9f16-c44815927f2f CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70a8cd42-d03f-4f71-a36f-19a22a5b9359 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1a5bbd-a076-4ea0-8973-945e1c1b6b29 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 397886fd-6a12-452c-8a28-f5dab93813dc CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c302f92f-a416-4280-9eec-9153ea233fde CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd36d7ea-02f1-4b2a-9758-f92f98f481f4 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ed2fea-8679-4e88-bfa4-8bc5dae5d42a CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c16641e-e882-46cd-9b07-edab7ccd9277 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f01807c-a60c-4468-aa39-aa5128c95306 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8374bcb-5ee2-41af-92e1-6c057aa51d20 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f566ff9-09c8-480c-b52d-742b2542da95 CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97e34f0d-aecd-4582-bdcb-59b9a61e7e2c CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b21572-744a-4d16-8986-542becf93e50 CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df710c00-9d85-4dee-9c31-3547a3322177 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ababf14-5b0f-47b4-80b7-5a9517756a19 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7af281cc-2eab-4fcd-b909-a77e82eeb312 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198e7a0e-730a-4a55-bfd6-1ca3644ce680 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8e239eb-5c0d-4c96-ad9c-fb22506a4053 CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0505e783-0766-450f-a9e4-4c7c3befdee2 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8038e0-b10e-44de-b195-090c319bb061 CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e26ca01-de67-464a-b57d-071ee97cd159 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a456c4fd-102e-4d73-912d-a72a2592aab8 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce62db81-5218-4e8b-b2d5-e24fffcd06e9 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e3dc83f-ece9-4c35-a0a6-5f62f5570dee CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a156e91f-a75d-41e6-a3ed-5cf9164bb90e CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 074292c1-06a1-4c8c-9e50-94ed0cae16b1 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5d9f52-9ba1-4818-b30b-c6666fd8ceb6 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f849551a-39ca-4a9c-8b04-f4a2550f5e93 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798b8d92-457a-4e41-8a92-4c232a730389 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11ae5b04-e517-4457-b6d3-b56d2a1dedda CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6346a1f4-d7b8-45bf-bf46-772df6498198 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bae22c92-f3c7-446c-b2af-f5ab6943311c CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c671e4-c645-4f21-96e7-b9925eb1ed19 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2366b663-818c-4382-9f8c-4fccfc76e1b9 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a60c133-8b5f-4a47-b7dd-659cf5984c4f CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b83651a6-5cdb-4da5-907e-b6c50b7bc029 CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ffee6a4-f86c-4b58-a838-2f886b9aa2b1 CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53d2db10-abfb-4fd4-8a79-da6b0a7d7c7d CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7630bf-e4a8-4744-968c-eaf96fbe274e CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 600ce27f-40c0-47eb-af5c-220d225ad4f8 CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c68ac1-975b-426e-b9a8-4860f46d2735 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6b2bdd3-b353-49a2-8fe5-30d3d1d34152 CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccfbb904-179a-40df-ac3a-46c6f573db8b CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8b8610f-42e8-4427-addd-e321845a87bb CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f71c98-54ac-4204-876c-c51bd344a215 CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7d9e7ff-7fde-4f10-8067-0cd07459b0f9 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a52e70f-7756-4fec-99e3-5c8f400bb31b CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 772ed4bb-c3d4-48ef-99d1-0acc1b80fcf3 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b96bfa0-6ffa-443c-a3cb-64f446b7b3e6 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23d87dba-6e54-4f4c-b6da-03b5f1ba5889 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e3c7b9-9b77-4e6b-912f-853d2ac6af4b CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f3bd2c4-b567-47a7-9b1b-3fb47d1d82c1 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f222dcc7-4e23-41c2-8f3e-ee89fcf0d7d1 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3bdf36a7-d3dd-4e5e-be0e-cafa99783bfd CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7344f02f-4b48-4a83-a1fc-1c6360764ba5 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6005c2f0-9153-410e-b13a-8e82dfef1aac CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e824af0-7685-4e3b-a953-d844ee9d72a6 CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12cbefe0-b308-45d2-90ba-cc6e7fca95e8 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1392ffc-bcbf-4a46-9b4d-ecaa53d21c96 CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49009406-475c-42c0-9618-5c0f7162c303 CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ffa829-7506-4843-931b-24cb067d6a09 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbac50cf-6f31-499e-8f85-b4051f4a00dc CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09dd1b8e-2ce6-4fca-88cc-b9e4fbbd5596 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf37fd33-4323-45cd-805b-214eaca5d512 CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e439088-9828-4674-8c32-9dd96f2ea676 CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e935b57-93da-4914-8a06-8afef848a1f7 CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586a8287-c2a3-47ed-98b3-81a0536b3573 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f05dd83-1c5a-4564-81f1-20c5efd9ed49 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bac0903-d7de-4368-8a9b-cdd4af3e1fe4 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54d9cbb3-6860-4396-8311-d20b571b80be CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219da98b-566f-4420-9644-77205fffa3b7 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 026f78aa-1ce3-4751-bf3e-2ad577d89bc4 CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b538291-dede-494e-a30b-01dc67e8cc10 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e8907e6-28f7-4e92-b525-1c59da29e997 CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbc6158-814c-4eb9-9bf2-2e823894f86c CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5db48d42-eb34-46ad-b672-74f11648d8e8 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77225743-e53e-47d0-a15d-5e3b5a3915a8 CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62ff90f9-d36f-40fa-87cb-777f3fce664a CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ff1185-c707-4ae9-8f88-9f0040807c7d CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc5d8c90-524b-4dda-81c2-1c27d3cd4b06 CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157c02fe-ae6d-4989-aac5-ef62672e9326 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 138bf6e4-baf5-4c93-9f25-d6350d9f4eec CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a590e5-fe82-4aaa-b6c2-3810933ecd5e CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad1efc61-8bbd-4f4f-b60f-775b2bc821af CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d862055-ef1f-4acd-b952-0fcea0697046 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b6c747f-5050-4c82-88ec-c26c78a12f6a CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 375b0ed4-2295-4ae0-95f1-60d31411af8b CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f116980-6295-4cd3-9066-7c52802ad4fa CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e241157-0b4e-4cc1-9f09-48c83ba38e7a CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f82c33a2-5b20-445b-894d-1e81bd319a3b CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bebfd257-d141-4286-9ee6-1f0815217824 CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 158a394d-51c5-40ce-b7cc-2d42018f273f CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425bac0e-5f44-4c14-9238-fd96e1d83d0c CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6279ae22-8172-42cc-9e36-52e5477c7444 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c48e74-a55e-481c-a1e4-2dc46a5902b9 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cd420d1-dfc9-48f5-a878-a5fd6d0d0697 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1b846e-2519-4b2a-8948-c7ca834cabe2 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19ceb5e6-928d-4284-8022-1a7728646531 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa80afb-5432-4a43-bc9c-968a8e7d8777 CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f74509b6-891a-4edf-bec9-795f0edea521 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f7fff8-869e-4c1f-935a-dc6b3697760e CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3b41f8a-8754-4328-9944-faf67649b4e1 CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bcafaa-d5ff-4838-bb35-4a1c4711996b CLINVAR:1723168 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d1950df-da8f-4f94-bebb-5078addfa5ae CLINVAR:1723168 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889cfa4d-b55e-46d4-9db8-02b7e87e7693 CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f411b8bd-6a7e-4abb-aa30-97ca1da85498 CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ed1f7c-635e-49db-a015-5eed5686d028 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6aa5f36f-1a35-4f17-9980-9e7cbe14e3ce CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffbeca7-feb4-4a3b-bf31-629b9928d93a CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67d9ca2e-db8a-4adf-b76a-64e1a6717785 CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e58e821-0044-4a02-8064-806dadbd85a0 CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d056dc5-45d1-4d00-bb6d-aef0ae5d02c6 CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c8ded1-301a-42b0-8ee0-3a0a346d04f4 CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3391f7cd-d42f-4ccc-b967-9ec9f9784d77 CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbb9c21-131f-43b1-a4f6-96aab901a4c3 CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5313f5f1-b090-44f2-9f9f-ecd61cb530bc CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac422d4-f690-4d00-86c0-26656b44f406 CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80420186-c6a8-48e3-85f6-9da055a40221 CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc3ebec-214c-45e0-a059-683ee316ca42 CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e222148-3292-4b04-95dd-cf5fb55c588a CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88cdbe8-4675-4265-b12e-80448ab5c2ab CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4289c78-757f-4d95-942d-ec1be9df79aa CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac209276-44d5-46df-a876-1c832964f789 CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d658a64-5b54-470d-8228-68eec76e2020 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6f941f-b644-480c-aeba-94313587b32b CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f71afe2c-04d7-44e4-a076-8168e34c6d3a CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e180f50e-0ba8-4d9b-bb9c-caa8c02208f7 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 980a4c0f-d708-48da-8175-a381a8341caf CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8e8b85-f298-49f6-ab92-0ec08c0cebaa CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62f90034-4cf3-47d6-9411-c3fd115ec7f8 CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfd4997-e9ba-414c-b35c-ce05104a4098 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e81c26bc-2bb5-40c1-86c9-bb2d31dbaf68 CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c56e668-f67e-4296-a889-3eb3310fd146 CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5200e37b-fb0c-496e-b1b2-d53a2d763fc2 CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d713a7a1-870e-4d9d-9516-991f680fc787 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e046f132-6f20-44c9-ac59-dca51a36723c CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2e86ac-3baf-473e-b07d-5a390be70e88 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd706d9d-363a-41d8-9797-235faba9f518 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c728d1-8378-41b8-a339-907da1393881 CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa85161e-00e1-49e5-a77a-3b31dd35aa29 CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1467f147-d69c-4be3-bb97-4f42b574230b CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f0cf78b-22ad-4c6e-8cc6-651a063fab36 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 200f5d8f-62ef-4061-b54d-1cc799ca0752 CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 657d4e5f-14a8-442c-8740-48bdd7fae60f CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff3b35e-1906-431b-8f60-b9ed62ee2e4f CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d32e9abe-957b-4c87-a5fd-5517b7e641ba CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd784f0c-388b-4923-a69d-5984707e6429 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60ee68d0-0855-4c72-8f38-9c3f0b3fd53b CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ea1550-5bfb-4a0f-95e4-d265d758ceae CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aecd790a-4eaa-4b57-8340-6dfdc9608ed4 CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e666c3-95a0-4de6-83bb-a8f69ad05448 CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 501f7d49-ac9c-4d60-9611-18298f9a6c75 CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24a8e2c-f0df-4bd3-8422-746c48c080e5 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71bd8f52-2716-463e-962e-eb733b05d620 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5ac558-51ea-4e25-84f2-c846dd8f9c45 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b7bd0f0-95ca-468e-a082-3b3b6ac037b8 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146ab3c9-e275-4074-9b7d-9627ee2e70a5 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afdfbb0d-619d-41ef-91ce-a7c245642031 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9085d9ca-fd4e-4e5d-bff2-c79a4d7e5015 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78b7a848-9e6b-4060-990f-9edd780cfa26 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d642048a-c0c8-4541-9287-17e31c0318f9 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c417195-33b5-4991-ac36-e5ddb9c9a01f CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa643c25-587c-4685-baf8-4c707f035228 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2eadd54-6724-405a-b8e6-1ed9750897c7 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 400d5775-5060-465a-b884-2bf227f6f1ab CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0a42c29-4a62-4e33-a2b6-91e0583077cf CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168d2a7b-4d14-4547-97a0-f7c9170f037b CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22729e85-2d5c-4cad-b575-a5bda4ea6f3c CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30670861-9add-494e-8462-8df6bb794b56 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1575554-8782-4c61-9e53-15c9942f1644 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06d68d7-b1c1-4b6a-90df-c9e0957cae43 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00cbb102-e1d1-4801-a129-b5c47d9d4a9a CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6928040f-6954-42ba-b2d5-203098c6cb65 CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb68a026-e5c3-4abc-8ab3-1fcf0882a16a CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b38b3e7-deab-437b-87f0-120401b05138 CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3203d47-5f24-48ab-be4c-00652461d796 CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333014e8-5523-436d-ad55-995685062648 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2dc7317-e70a-4f09-9aa7-f510cab4d5d4 CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30bdfc1f-37c6-4562-9c27-64d56db4f5df CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01a354eb-2179-4cf1-b4f7-a65878b7e649 CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 375ed61a-3fc0-4991-a10c-28ecc5277e49 CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dab6ffa-4529-496c-a9c7-4b06f87a04cb CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ed7a6c-c827-4737-846b-8e64a9a94ca1 CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c65aefb8-ca3b-4ed7-889d-22f490f53822 CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d32f1d-991f-4f11-89be-aa6653b9798e CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69dad15c-c058-4757-b68d-41a5d30d09b6 CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bba5dfc-d238-4d79-8ca0-b08a1d57463c CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71230ac5-af9c-4f81-a639-ad266d0ca9be CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a80bc5-5b90-4abc-b359-7103e963caa4 CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d01d9ac6-db7a-40e3-9ad4-1c1944856c26 CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a125a64-c474-4b95-babb-542d861ae48e CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 673542dd-e4f1-491c-a3c2-e5131f0ea7ef CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d4cfac-6258-48b6-bc2e-b8837ce5d04e CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99ab159b-839e-4e1a-9837-406d1c7fb7f5 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc995a7-172b-4750-91ed-338cdb7c7c02 CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae6bdddf-d8f1-4906-b18a-f46f79a4b1ed CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77277fb0-99ec-458f-82eb-feabcd16918c CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4776c7bc-8c98-4741-b69c-fb7d1fc6b673 CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee6cc36-4e90-4991-b0c8-df5d67b1c3c3 CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1edb00a-a481-4345-a285-8305917c651b CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75945e7-6a09-4921-bf5b-1634e350577d CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e241ca4-97d0-4b9b-8654-d98c98ae8121 CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0b54ce-9e1d-468f-ae57-45ef3150f76e CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7df4c13d-4ab0-45e1-8c4d-9c4c96041077 CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344e42a9-15e7-4dea-be9e-1bf1f42ff7d2 CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08e394e7-db33-411b-9c84-437c9b526535 CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb1297a-5230-49f2-ad1f-bca3501f5381 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b17d949-b7eb-423a-a0f3-dc5bd09433e6 CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f247763a-aaac-4186-bd65-858664cff711 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8806342b-8fb3-4e0f-b729-598fb365c7f7 CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691c1064-715c-4ddb-8c61-5be74e62b2b3 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8236e53c-fc06-494a-b3da-f22a24328a84 CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d0f8f0-6251-4bee-bc90-f55be4f25837 CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22d2c8fd-0ea0-47a4-a53d-e7c4c24b6dcb CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e915265d-45b5-4082-a328-304ce4b60b70 CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8716604b-bee3-42be-90c5-772a01683146 CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b48ade2-90e4-4770-8140-d4f1e99da738 CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a18e59e-0c6a-48ba-8189-096a4cddf151 CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fc3696-038b-43f6-8a04-6934cbc43ee8 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c8a888f-3aed-4196-80cc-981b9f5108b8 CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924524c8-7421-4f84-80d6-dc5bbce44f49 CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bcb3ef3-e03f-4ea0-9b3e-cefdf575328f CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ba2952-4f09-4425-b90f-8301e24f7f75 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d046d78-8911-4178-aa05-7aec0198ae14 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154b6583-072d-4588-8e3a-52a7bfea8fbb CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e26fbb3e-a1bd-4ff0-aae1-a2b496480934 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc132460-400a-4210-aad5-a94d71f24918 CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8fcc51b-abe0-4c80-bf3c-19ca42dc8922 CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321020fd-b01e-435f-b10b-c0f11bbe6dc8 CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89c0e4f8-bbcd-4050-a355-ea9a3f4da8bc CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e81b277-bce7-48f1-a251-3407a44a905c CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1758af01-6569-4fb2-8b8f-50900a3cd126 CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b97722c-165f-4c3d-8ab3-87a7ba519b26 CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a67c968-06a4-4f44-89f4-2fb9d9d71ba7 CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13cfee74-3be9-466f-9747-dc245074033b CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9c27472-55d2-46e8-a729-e1ba9fcb646a CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b570c5a-62ff-4cbd-a573-fb68c1a39386 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c78c9e1-4a10-4e45-8af4-a89300b9bf15 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ab5c28-66f3-4787-a3a1-21ce53c4e2a2 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b34c575e-6ceb-40eb-8599-6c931f921c7a CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7609124-89ec-41d3-a5ef-8324a2c501bd CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99f8ff17-a430-4e3e-a775-76ca2e72402b CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94d65b4-6fe2-468b-91ea-680baf77366e CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f042831-410a-4c39-80a2-a153de0d140b CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d6f718-7a6c-48a2-ad5a-09e9e75e0f00 CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e1f1aeb-51f1-48db-b47f-64fba255c8ea CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7333f0f5-4e15-4f5a-9c7c-70fd174aaa8c CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5dcbd69-942f-4529-b7b2-74201008361e CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9f6aa6-fe23-447e-ad50-81b7b8a08ebf CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58e3220c-3b69-47c5-a507-b1b459693b6f CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14d9d92-678b-4cc0-af4a-5d786b46526d CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9b925af-d50d-4e8e-8429-ba04f2691c52 CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84768955-727a-4420-8fc8-3794a3508fd4 CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af4d99e9-0991-4041-b44f-ccefeeaa84e2 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3829d5-07a7-4866-969f-006427e036a6 CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1abad44d-3871-40cf-9fdc-f34ef2e7355d CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd54064-047c-48fa-88d0-a7f5fa500d8b CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 575a5d86-4abf-41f7-bca3-2e1161e7b065 CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a97e3a-60fc-432a-af32-e3de45796563 CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d86abb53-5816-4a14-b0fe-b80e51ddd22b CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1927e-3f95-40e9-a9cf-dc76ee90aadc CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9fe820b-54d1-4f96-8b54-e082032de82d CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ac02d8-b454-4ccf-be42-b3d58d1a3645 CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac33863a-4c82-45bd-90c9-24ee18d90507 CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb6e871-00be-45d6-b05f-b681745fad75 CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eb1590e-bca8-4378-9ba9-1eb292421aaa CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09bece43-eb98-4d7a-803b-0015b9792f11 CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e9577a7-6021-439a-8af1-85191ea6bcfc CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd3140f-7201-4f74-88ed-7eac42c2cabd CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 897f43f0-225f-4608-900a-953dc6c179f7 CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b96ae1-4853-4a39-8cac-80782a0d30ed CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57ce890d-1704-4f39-8bfe-6bca557522d2 CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b00329d1-5ff9-420c-9424-8a115b650308 CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6445b24-7bf7-4726-a660-7d2c2237730d CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c19191-ee83-40e8-ac6b-b024f91415f7 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c47c5dab-5944-41b3-b4c6-3fd51a4ba1f6 CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f50ae7-87da-4e61-adb1-5da1f0bf8f58 CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b4f9eaf-6d42-43b3-ab76-1c735c5a5be2 CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0135de-55fb-4394-8d52-5004fcdc89a3 CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0acb350-7938-428e-ba2b-a6e057005fc8 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02015567-0cb0-42c6-94dd-ca3ebb915af0 CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 905269da-f9b1-4870-83f1-c01d886968ca CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee031af0-3c26-4e64-be32-e1c38c84853b CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d224c57-d81b-4ec6-a78c-092cfe5908de CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91423d79-6819-4d93-9f1b-fb4e908a8dd1 CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02e1c371-e218-45a0-a645-07091cfd3853 CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fb0406-7d42-40d8-aac0-05a55be40d1b CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d46f737-bb1e-4f49-badc-e0827548068b CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e902af64-f9bb-452b-ab59-ac31c8576805 CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e82f04a1-3d62-44bd-9c68-5d4898c960c9 CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a43b89-a100-4932-9662-8df8569edc92 CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ece38b9-eb16-43c7-9add-2f78eae48c2d CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0578875-5518-4fa6-982d-b6d6c3391fe3 CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1a53c6a-d321-4e5a-8cdb-01ce15ed4310 CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5244b2d8-957c-4683-ad66-e29bd2d78327 CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d2704ba-340f-4607-bf1d-56f1c3608229 CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3700b4-e396-4e4f-9c36-65649ff4cfc4 CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1939fcca-d774-43c0-a8a0-a6cca0b31982 CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca49f53-30d1-4330-a403-e997ba750ae2 CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 490378db-b53d-4a33-8fe3-e6dbfce84e28 CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83715b25-2f40-4196-a028-94ad099fd80b CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edb0f245-ac0c-4e17-975f-f09cb14541bc CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c599b73-beec-46ed-b450-eb7876ca687d CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e6ef604-f855-49c2-8fbe-2ad725163000 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ad8e5e-f350-42e7-ad05-c19c9d53fdcf CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0e7aa93-d5ae-495c-9c89-d4f820f9bb9a CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe80add2-4c18-4314-8573-2ca4adbf497a CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 574a5e03-22cd-4b16-bcdf-7b99e952814d CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852c20df-e38e-47de-ba6c-75d952739106 CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fac056b-e03a-47b5-b697-b8b0779b763d CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aed6ab2-d5d7-4182-ad06-07f41b6ba8af CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdc2d45c-e5b0-415d-b631-76f42e0535a5 CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1e0cdc-d6ff-48f5-94d7-f0287f67f507 CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e524f60-2ead-4a9c-b64a-06e46438d89f CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71a114c-6aa9-4d9b-8e31-fc4e3f3e7c43 CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a720d44-7a6f-4a98-b045-1a777efc56ac CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62cb745-9f41-48f4-a34a-4f70959fd7ed CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14657d11-3857-4254-9454-0b728097e49a CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2be981-4c6e-4b8c-949c-0055907b6eaa CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deb805ea-fab1-440a-a64b-d3877b352a8f CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c019e6-947b-4c2a-a866-3e3e4231ca83 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66e7935d-af06-4700-b903-dcb24fa1d5d9 CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f763c84-a793-4ac6-b533-453e8c69290a CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f09e1b6f-143a-4a0f-8be2-60daf82dac5d CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66dd5809-5852-454f-a18a-c5a478ba2ee8 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ce4dedb-fc34-4d74-acf3-958ec69112f5 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bb37f9-4019-4ab1-a5ba-1b1cce31b960 CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7bbf191-99f9-4c24-aad1-350e393482c3 CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99324ade-d48d-4ace-a4e5-81c60e05e868 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79b44c4d-44e9-48c1-817b-a7591991da09 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115ca8f4-a55b-4870-ace5-bfe05267198c CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 640d2efc-4561-4bc0-8858-3e990e1ab1c6 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613bab02-edda-4fed-8554-0edca6bf4cc9 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da5e802a-6948-4e2e-8ea9-28aadfc3f642 CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8deb9584-b11e-4a79-bd67-692dad290379 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84b044a1-5c40-4f8d-9da5-1680000dd447 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1de8b6-ab53-4f09-bb80-d0cd73226e55 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c92d9ff-a6ea-4d8b-bc2b-6db727457177 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec60b16-757d-4e15-9007-199288d96c01 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4a62d1c-e171-4a02-b9b2-4cb3d8fdf8c5 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b57881-e3f3-48dd-a1fe-c7695d5194ce CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 931832eb-d5c0-4542-ab00-0b418b2fee6e CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1db8038-542a-4996-ab10-1d4e8c0c5c68 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 994641ab-6ded-4d30-90c9-a6cef487e2c2 CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9ccbee-fe9e-4f98-96c0-02f405df62e1 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b4185c9-d0a7-430b-bcc0-87ca32911147 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fb7142-5918-48df-ae8a-f49514c3e94c CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7f6cd09-8941-4cef-842b-88ce8aa8dbe7 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8210f5dd-3847-4634-985c-7289ccbef10a CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 307c2457-f04b-4fc5-ae50-93316c3ffdc0 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faef6941-ad83-4d7e-a88b-47d6d9a26839 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9b3a29f-b1b5-4114-a2bc-01a32b146d81 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5c1637-5c05-46b5-a7f5-fb34ce306076 CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3da67b79-9ffb-436d-bfa2-0907500b999d CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58aa6874-c17d-46e0-a263-f17e16630425 CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2883b07-3d49-4841-b427-4078fcdc1654 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f4a338-315f-4f4d-84f2-4ddc2e7f948b CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f7b0518-361b-475d-b66d-bb864b436f8b CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6773e3-7d11-488c-a065-85b3c1d52b21 CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11b2ef3d-c8d4-4c51-84c1-015f98dc61aa CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32e8414-1fb8-4c29-84c9-7ac008660a37 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11d04b5b-9124-4cc2-a308-d5c945e466c7 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeda26e0-1806-4197-a89e-7f19205c02fa CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4184a654-3d26-403b-9146-828a39af855f CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b0084b-380a-4780-9635-87e6f729ccde CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e479b52-902d-486e-a3df-9031d517aed9 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a30a8e-98e6-4456-a64c-908493ad6710 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3526469-89e8-4581-9bb2-9eafab855c98 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16b07ea-a754-405f-885a-f5ce5a084452 CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 263527cd-c551-44c9-b11e-d66b91e8b812 CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d84c07c-705f-4f68-9b6c-b4e5933e39cf CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed51804c-8494-4bb0-89b5-02c2d4b4b4d1 CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2d7633-7943-4444-b00e-111386c08815 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdf0af4f-175b-4db2-893b-75f600247adf CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5aff4b-0e44-4583-a001-3a2aec11904b CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b8ea67b-0091-47c9-b228-7dc30284113e CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6c1646-d597-41a9-ad74-3bc48e401ebd CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e34b77ae-8dd2-446b-a2d3-504a828be744 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087dd738-afbc-4cef-b6a8-9c7847075e93 CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0935e8d-8308-40b0-aea2-f45ec503b5d8 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d84155-039c-4093-b9a7-667af44c0cf5 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fba75262-32f8-4458-b401-862edf043601 CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed39fff3-1f78-4e23-abc4-cd80e84ecfeb CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2811f019-a02f-4286-8200-179d4f7b49d4 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b62c855-614b-4706-b4e5-4c0c31b3fdd5 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9652fcf5-6705-468e-9783-bc3f0088abd4 CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57bea53-3c54-470e-b763-764bf683e17a CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b8af7f2-81c5-465f-b007-538bfb676da4 CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff4b2fd-c7ea-4f1e-9c92-ed2994292cf2 CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f41843fa-abcc-4282-9c7f-ce5b2b438bc8 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f64316-28c1-4124-a8f6-4e672bf8d3d7 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 953e2277-f8c8-4b26-be35-1d341a92b915 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf19217-84e2-4ddf-be08-5d8f4d8c9442 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40824d25-f11f-4eea-ad5c-6b9ea330d14c CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92384df7-065b-4e2c-9970-3b79d1041548 CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8129c20e-43f0-4a77-ad83-23432db91131 CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67f68f2-450c-4693-a799-e2e74ce25cd5 CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 748d1c64-b719-4567-801f-7effb895b4b8 CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6e7caf-990f-43f8-bb71-9a72be33c989 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28faa75c-d839-4773-8dca-28ba3bdd3182 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be1ad19-c614-4068-a251-7fa0b17dfee0 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b624c15-4abb-4cc6-aa52-5304be0f646f CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2792a25-eff8-4802-9cbe-cc92bbe104c9 CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34a13b92-bcb3-4a5c-a43e-e246cf5fb6ed CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26acf95a-3357-48e6-b487-85b5f73dbc62 CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4608a750-d149-4bbc-a7e3-40080ffd3af2 CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74c81b4-0ee2-4c73-8db3-e0800f753b95 CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e879470c-fc98-428b-aef5-d9f57793c05b CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a358ea-1a8a-4546-9b1a-71d5d9db50d4 CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68883d03-2121-42a1-b953-21655f9acdf0 CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b424899b-2276-41ce-a865-3321c5edd82a CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ced3828c-f7d0-4346-8069-d77ddd6426ae CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b402ab-0c63-4900-9a55-4be1a50ff114 CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03dce837-b330-4962-8889-4b4a45a4d717 CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59305caa-3152-412e-ba8e-7037c7c36535 CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd007ee8-1410-4bcb-b9a9-d56c005b19a5 CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b504b2-8b31-4a46-85d3-3dec4ded1fa0 CAID:CA343723062 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15c9763a-31d2-4932-8b41-b158828d5fc0 CAID:CA343723062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a3d6f5d-a757-428e-9c30-18d9fb7afdca CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b7f3dd3-4c7e-4715-bb65-b7e18e1146a1 CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6437dbab-9bdf-4354-b8d3-c806d6588861 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a786999c-0a66-4d51-b667-cc7b99e878a8 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f317234b-549b-4630-b7a9-89c751e3c917 CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44e83d69-d80a-4b8f-91f3-f8666d7c0378 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f956e31a-334b-4d63-9e58-6ae4e380fbdd CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19c015d6-8762-4d24-be2f-d33269beb66a CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00d3a9d-f61d-4257-818f-6fad7e6bba0c CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 313c069c-2146-400a-8044-c4a424891cd8 CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c59214-f012-443f-9c5c-eb159751764e CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a24f031d-630a-4510-86c0-cacec21a9f05 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3deb55c1-0e63-4953-991f-3e67247b93bd CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 343e7c87-ac68-45e9-8878-eb97e9ce308e CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c757275d-553c-4a43-8651-d1c629c45547 CLINVAR:7957 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a02393e0-2624-435d-a8b4-b91bb7ed89e5 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f3d131-ddcb-4fc0-9dd5-70fb4d746920 CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb793ac8-d447-40e5-99ed-dc802d1ea3ed CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d9688a-b51a-41f3-8e7f-85e897627ebb CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78d3859b-117f-4c60-8a30-e94136b2f55c CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a840de70-bb74-4476-8506-c1b95b055931 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4ef2967-178a-4466-ac39-b39293452f97 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dca38b1f-71a8-4dc0-ba63-6ec26366e4b3 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 756be557-94e7-440e-bd7c-fa779a809665 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad25deb-7205-4846-9545-554b9ad53a4e CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18dfbfb0-61b5-4a71-9047-dc7c1b96fbd0 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab4833c-d239-49a4-b1f7-c19a36992022 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29f6bcd2-eacc-4300-881c-5ff4d3167e19 CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3644acf0-5da7-46b7-b958-781b56fc4f0e CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7551e37a-2d19-4af1-89c8-b3c84c926a4e CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415350f7-93bb-466f-89cd-e3bec079dbd9 CLINVAR:380058 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3224405a-11e6-4e83-9448-394e5550e2cb CLINVAR:380058 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb6f56e-29d5-403a-8206-dbb7d61800e2 CLINVAR:516249 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bdfd148-f81d-46d6-b426-d538235974a9 CLINVAR:516249 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194f77ee-88dc-4d7f-a134-01c5e0110447 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61f67bab-2822-4bfa-b131-8ad43405b265 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1a539b-2ce5-4d53-8168-956eb4102c55 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54f4edf4-d521-4f02-bd42-157008ca7262 CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3274d37-416e-474a-b69c-01cee02124a4 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 166296f1-9802-44b4-8e5b-a1b8d8e8d41e CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe5d18e-6311-47d9-b127-c1d5db065de6 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48862d30-120f-4171-a45f-8abc65b56650 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775d44ed-43ba-426a-83e7-f0f59edc3c29 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f353c7b2-f9d4-4677-bd1c-99085df1df67 CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54eeb0b6-bfe3-4162-9cd6-43582023a2cf CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76cc7b86-ba93-49ca-8e2d-0cb23e94f487 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e75843-0e72-4007-9568-0c517bd2e14e CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80f13291-fd86-42ec-9e5c-8451f67c72e5 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1b1f4b-6258-439d-9422-4d9d8077b818 CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5525680d-d6b6-4700-8778-c09f6b53264b CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5dcffd-f50e-4edc-9287-9ce2dbec3877 CLINVAR:972747 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e268f3b-b49c-461d-aab5-6009a375b070 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f8c2e5-3111-48ee-adbf-8af15c0a5bdc CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cde1e37-2e02-44d3-920c-cc337ad8200e CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23e2ee2-f62f-48e5-821b-2c79404f134b CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bab4d5dd-5bab-49dc-a68a-287b484d93d9 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d28581b-d42c-4463-a115-099277d30958 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 411a5ada-51bf-46b8-ab93-a1b61f09356c CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da644777-7402-441e-bf6b-4c996018ce88 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fd44d43-9e16-4c71-982b-372a41610eca CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a73186-2fd7-4911-8ea6-acb2526403ed CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9edf9134-d048-45d3-8088-68bc81cac7f6 CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f44434-5119-4b6d-8df9-229fbaab0904 CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0ab5e7d-2e10-4336-bb03-f80d46e6301e CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd25866b-52d3-4aac-8f8c-982b0c70377c CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14b3f096-2f0e-48f8-b78e-a7882848f16b CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38da56db-54e0-4bd8-8e09-a49fc8d1d3ca CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb29ecd7-3209-464b-a61d-e4cee66bd3a3 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b73743-1473-4fe9-bbdd-3a3b8d921ed3 CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06df86e6-d090-4b6e-8c3e-d7a807ff1ff4 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061b3bbd-ff18-4c94-8831-079db67e2f23 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 414d4fbe-4985-49a5-bcf7-41ad0688feba CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8372fb1-e48f-4452-816d-201ed762c6f6 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fd5fadb-392c-4e11-8183-6f89006f75db CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c05fd5-a16a-4a74-a963-eb17962e3a33 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bba4459-cbe2-4211-a7ca-8661f9ffed6a CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011b2d2e-06e7-4948-89c7-400c7163606b CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62f6a64d-867e-4c68-990f-31b89acc0a61 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ce1610-1eab-442e-93ba-5447b1d16324 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25c8d008-0fca-4042-be90-ecc31fbcc427 CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191a26a7-1974-4f00-b49a-c220f95650af CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5998809f-fc37-4d0c-b2c0-fd22d0a2f7ea CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1428d754-14ed-4078-b852-4c2911fcfef4 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61d69767-aa0e-449b-8d2f-67eb3e94a9fa CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a328df8-3b8b-46c1-8590-c0fa6ca40d2a CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e6b52a3-e025-467c-8a4c-1e07497c9a1b CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea6fbd2-93e1-41c3-9519-44c957abb1d6 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6146c6a4-6537-4193-a794-304c4e81bc75 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88720e3d-5ebc-4af1-a151-41bca2fb4109 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9ef8941-e145-4e89-b9e5-12443129a745 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3572de-a9a2-45fb-b6a1-1977a6d4abb9 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62e29706-f0bc-437f-9460-d972cc0d2ac1 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72f8bea-3759-4bb7-ba0c-7e531ebf31f5 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acd13fbc-ca18-4676-98ab-9deca182f8c2 CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda05254-74df-4e4d-8c86-0793fc00cd14 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3268e213-d5cb-45da-8cf7-718da11951eb CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aabe665-919f-4db0-9953-276c1ffd4995 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a951d83-8da9-452f-8ae2-f7d55ce5c947 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69ec3a2-3edf-45f9-bf51-0f33ce010362 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 908c1da2-4539-4047-a0cf-e8451fdddfb1 CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80597ec-1b36-43ee-b5a7-3bd790e74315 CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfc17f7d-58fc-4fcb-8253-e35009a5b5e1 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480217e0-d3ca-4a52-b26f-72fb035dac80 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29f12c63-6bc9-488d-b00b-c1f5e5bca9e5 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bcf922-e617-4573-8851-cea243e460c2 CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bec15371-b05c-489b-bfd4-cbd98014d4b4 CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c154a8-77d8-409a-8b5f-7b749be2e64c CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c87ff26e-250b-4324-b15f-8cb6c92fe24b CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee507e0-fdf2-4df1-b8cb-d79032f84de0 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bbae954-8daf-4866-9ce3-a415aa2df605 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4a3d10-639a-4df2-b961-dee63b417a3d CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1b68e90-8477-4f21-bb9b-1291d2ef04f6 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41212efd-4190-4fd7-ad8b-6afd1588c293 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b0b7bcb-6eec-46c2-8702-a3294109be0a CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b295f005-762b-48f3-9e7b-5927b9d4e7c4 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8d8f6db-1cb3-4a85-aa53-4bae5900c92d CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0d7a56-9d0f-4059-84db-a5df77d1bf23 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d543f6c1-d9bc-49b2-8220-d121a1f55b92 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d809dd9-cec6-4f64-91f9-3acc2452992a CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a98c4bea-25d3-4eed-b160-bf10dd6cb154 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a20d47-3c71-45a2-a0a5-602fd63e15cf CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6aaffd4-e1fb-4110-bb9d-6f5621a6a6e5 CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0d3e46-f6d9-46ed-9785-52956089081e CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f02fbc4c-2d92-407a-bc58-4136ef99a938 CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e3bc5b-1e16-409a-94bf-5b7f1f54b3c4 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 044fc3f7-b132-44ef-9a46-b91a9be121a5 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b049f08-1415-4245-8502-cffab3a6d220 CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 773f4567-bfd8-4371-a55a-8156a6b76fe7 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0eb0709-de37-418d-862e-a9ff1b2e610a CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a1085d0-5101-41f9-bd05-fc4a18869162 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba98e22-b8d7-45f4-b379-9c308f042917 CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69677877-7fc4-4f18-b604-add919bf2b64 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7694164-7fd7-4d70-85e3-3386533d6bdb CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e85c55b3-2512-4a87-93fa-ecc61b82242b CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e484faf-b799-4ebb-a896-ae6389e0892d CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f372ffb-e66d-49c7-8f43-05b32b8b0ee4 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d40f1f-1713-4330-9063-11d57c103699 CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d66d7e3-f1c5-4585-abe7-92c79d751665 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d211d70e-11c2-4f17-a07e-a9e1024b7723 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 884c7846-6540-474b-8e05-511bf1abeec5 CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad4b570-4c7a-4432-ac31-020c2f7e901a CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a290852-4607-4564-bffd-2e6104f1dd79 CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb72cdbe-fa79-4892-b894-bbdfc93934d1 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e4d0e04-128a-4b01-9d52-5fa4cb03d3ef CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72210351-8415-4df2-a46c-18476e99317f CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0a431e0-dda3-4891-95f8-ea5543d219ef CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593f0cb7-3cff-4b39-aa47-025b7e036d7c CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b66cac1f-2696-49d4-aee0-9d55800fc77a CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f7e0f1-2a46-4b00-b76a-7639dd160db6 CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99207b6b-433a-4d07-80b6-2048d6dde581 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35f5ba9-1c38-4590-b433-5b1721b50c2f CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31018efa-8fe6-4a3e-b1e3-d5362ea2be64 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7788c1-315c-4642-a38c-f8b81589fac7 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c793acb7-c5ab-47e4-a8d1-a88c5cd290ee CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f4d102-ee55-42c4-9546-920b3e807dcc CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd25d9e0-8f0f-4774-8dfc-238f65177455 CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91017371-9241-48b8-813e-5062a3939685 CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68db639e-ad8b-40a6-8cf4-aa2f6431c62b CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308a6c2f-7c02-4c6d-a547-64f63101d52b CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcb66f8a-2361-4346-a1ae-535bb7962b96 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60131f9-688e-497d-b3ec-be6267808367 CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c04e29df-2a93-4650-a849-f151fb10b0a8 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f94194-12d8-4474-b72f-7b77b64d9a1b CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70ac7f24-fab9-47b7-828e-b8bb11c8812b CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f76c24-ac64-4ab3-8f1b-38769196bded CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 885d0288-4cea-4f9f-a6d4-24fd2529a21e CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7733b788-bd0d-48cc-80de-102c8e1f6b48 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11fcdfc4-74c3-4f22-b107-ce2a5820b129 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 079d3510-39fb-4b17-ba91-c859d6b38d48 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e72cf6e4-a9da-4efc-ac33-382e8af4111c CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66a1715-1433-43dc-b623-d9dce2b3f457 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d21b862-e449-4142-8b90-3c624755dcb2 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e053c4-d0a8-4a94-a00b-8a1a3e51bb98 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4101f651-a312-4b46-84d5-4549af847d6d CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed92a49-ab53-4283-8a06-84496e84c00e CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcb7b0cf-08e3-4809-869f-983db9dc224b CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce5d528-48ef-4fb5-a686-137425d19b4c CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f852d434-372d-4fb5-9eeb-95b339ef486a CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab7dc56-2678-4375-a464-8be049cee4f6 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0050a4b-442e-400a-86ed-240c351a182a CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e12a94-ab8f-42e2-91f2-0b6378f1e737 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a487e5bc-2aa9-4734-a8c0-fa18297c6601 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15f48e0-02d9-4cdd-abef-ddf22eb05421 CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fac4db8e-a832-40d9-beac-3db6980b96c1 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c45291c4-139a-4025-9afd-9ff23eafcab1 CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5edc2ec6-d002-4b11-9691-58a8d3825ddb CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d9a48e-3caa-4879-b10d-ed7ed6f8f40d CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e0a6fb4-f21d-4162-972f-d99d35ab9167 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753854aa-4439-4eb4-a4e3-08d06bdc2f64 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47c1e264-dfe6-4da7-97a6-3b69755bb251 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97efc2d-b66e-4dc2-96dc-e985ec650d92 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e45ee96-5597-4e9c-a827-defd2cfd2d51 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ca3bdd-5ea7-41a6-89f0-f2b31a3dd8dc CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbac0a76-8f54-458b-b3a3-fb6d6ef41818 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f356a357-5be7-4242-b19b-8ab9eebb9a96 CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a8a393e-77f3-4e8c-b4c5-b5a4b0377016 CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62210848-41a1-4074-b91c-a4e955c8f535 CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 090aa2c6-63e4-474f-b221-acdbd45e7588 CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5723a43a-e4a8-4483-a109-3674b39468fb CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5721a44-7993-4019-b3f3-f74cf85bdf8a CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf6b067-ac66-449c-be31-4e37a1ba1cd0 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3370c23-6898-4da3-a996-787a5aaebf5b CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503297da-db3b-4131-8dda-205df69e7d43 CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea1bd67b-86b0-410b-b576-23b2dea6fd7f CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79e24b3-6c60-40ca-bdea-c8725fa2fa2b CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36a28d80-57ba-419e-a0e4-9832ba830174 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d3ca6b-442f-4004-9878-ad6b689ce091 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 586df6e2-5512-4827-b0d3-1cc2dcdfcd2c CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce4060c-7079-4a91-ae08-ef999b9e576f CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8e9b160-9e59-40e1-99b8-3a57963260df CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708d6d6e-283c-4e7d-a259-aab656561cf9 CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f394498-8d3c-48a6-a9df-0121c62dae87 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da862fa3-5209-4c0d-8b79-0c792052f83d CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e020c6af-f44c-4d2e-9de9-4a0f0d2e4bd0 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd6fa33-133d-47bf-b7ef-046c440319ef CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3154bf2-8dba-412e-8b0d-b4f81b083a82 CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945e1ed4-8bfa-463f-a7d6-e33ae9c0aea4 CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06cce0dd-ee58-4083-a691-4d61394553d4 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89720779-e5fe-4d17-9236-43e8f2ebc6f7 CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 460abcd8-2296-4a9b-a090-c21ce861537e CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604663d5-842f-492b-85ff-a8749e705fbc CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c21f89ee-0c0b-4648-ae18-0a5c33f69efb CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da6a87a-421d-48dd-9aa3-ecb563cf2dad CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 863ced3d-4c44-4ba3-aafd-d9f6fb7efdf6 CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67327a59-2bba-418c-ba66-0e9860585ffd CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7241842f-6325-435b-94df-3ba2cd4895ae CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f874b697-f66b-420a-abc6-98671a02e1d5 CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20e59264-df63-44fc-938c-7348703cc9f8 CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc82cc4-e392-4bea-85e8-82533ea6fa2c CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 067f4756-ee8f-47df-9227-ceeea9cd5e5b CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3aabb03-05f3-47c7-a77f-5038a4463d9f CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81d40070-c967-4656-a64d-2960318e9f7d CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f21c8cc-b964-4d7d-a9dc-6cf2eb74c7f0 CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 170414fc-cc58-48bd-84ff-0a120bea34d4 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d24c3ff-4ac1-4718-b6ea-c1126cb2b790 CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8a1bf8d-442e-474b-85fb-c8d56f948e79 CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075cbc92-7d93-445d-95b0-ae88e7773302 CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9a92a4c-fa00-4109-bb42-9ebefd44e1ed CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7d0bf3-d001-4e56-b540-38e31827af9d CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1656733-aa3e-4fe4-a596-ebab7fce627f CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48491e20-213e-465e-b294-e3a79ef4baca CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b47e066d-6cc3-4d38-88c5-7d0d01a66a78 CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402d222e-d88b-4dd4-a272-4d4b574326ef CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02a98ba6-f58c-4155-a9a4-02e15f709ad9 CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0006be2b-a846-4f7d-a0c6-9979b9c57edd CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a6469fd-fe59-4da5-a23a-41a254b31421 CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78f16ae-7c74-4077-bf1b-7c5d222a304b CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f060f693-8446-4b7f-bd07-e63d31313ab5 CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd3f18d-6d58-4091-8446-3c0538ffe3c6 CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8790f273-c43e-4765-ab5d-f99a5d4aec22 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32943fe8-6cec-4639-b645-1233ecf07aa8 CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fed59fcd-3b3c-4355-9bd8-5c36b3289683 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e74e305-5b0d-4688-bea7-ceaee754bcc1 CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f15eb4-6870-4e35-8225-792db0bfb6bd CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57e1be0-7c06-4e0b-87b1-eef2b352bca1 CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ced0bb37-5cfd-4bf9-89b5-ef4ddfc65663 CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfa9b94-5b06-467c-a76f-3e21b8e133aa CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92695801-e1fb-4ee4-be0e-9d84264049fe CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc3c05a-9bc1-4cd0-9fc3-f8c4d112a4ff CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81563e86-8c5a-4c64-8ea5-95080a1a9a16 CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bbf1aa-6a9a-4dc1-8376-fc4e94c48611 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6571c9e-43a4-40fc-b742-8d6736f558ba CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812ce008-8ea4-4788-9f17-a0974f95bc80 CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce61f401-fdbe-4911-b3fb-6ebc9e7ef6dc CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cca4c5-0216-4de1-b7fd-7997548ea122 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee620bcb-6dc4-4f40-8f4b-0beb65050532 CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afaaf5c-74a0-4b82-9c0f-91abedc71809 CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b6c4c15-43ef-48cc-81cd-ef05d6b51617 CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9861ab-da23-445d-b5b1-0a3ea3e739e7 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae8d7909-4f7b-42bc-91f5-87c6097d8ff7 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20dc4c27-dc8e-426d-9c33-36269e26a788 CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c70e4c3f-87ba-423e-958f-8d180cf8c2f0 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab2632d-7946-48e7-8da6-181189cd0ab6 CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c43e7cd-a649-4459-a1d0-4850fa834528 CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbbcd01-573e-4067-b0b4-e0f01f6b5bd6 CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ed9ceba-96dd-4732-be66-2c6c396b49fd CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b88c203-837b-4418-9182-6e9fb9dc6738 CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49d7fd6e-a050-4457-bd94-cb7aa58391ab CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa9fbfc-1902-46aa-b198-b1c796358fb2 CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd63625-848d-4984-8a0a-50860b8dd237 CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fb8fbd-acfa-4a5e-b5cf-1dfb113fbf43 CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21992a62-4fc9-423b-96f6-8c7570dcdb74 CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a168023-b643-4331-9e0d-ab86de9f447c CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3110f24c-681d-4c98-9d5b-93ca6f81b2df CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba176e2-a722-4e3a-9e79-a452161b490e CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8160bbb9-de48-44a2-86da-848bd967216a CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a16047-6a23-4d69-9970-43d3881097cf CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c0f1543-8960-4e1c-a244-c64a6ba2156f CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73a33d0-155d-4125-bcaf-00130ec935ef CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f36b94ec-3318-4644-80fa-ace1a317d366 CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49053a9-7c0a-4574-9b2e-b15de14dd55c CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bf0910b-9dd1-4dad-9303-9d3d42e79d1e CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1054b6df-ccb0-4cf6-a222-fd384a321df6 CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a6883b4-03c8-43a0-88aa-535851e51370 CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e60c4c-ec0f-4334-8911-1beeb8ea3421 CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ced59f8d-8bc0-407d-ba4a-bc4dc7fdea70 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8694e7e2-0712-480a-88f4-dcb5933d06bb CAID:CA343725980 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baec9812-fa7f-4749-8f71-689c542a1331 CAID:CA343725980 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef54ad60-4397-4bfc-bcdb-77fabf35ca52 CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2c75963-ff2c-48d2-952e-3d578aeb8ad9 CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f79ac43-6086-47ce-8ca6-74565c6d3978 CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e85d04-e91d-4ece-b8f3-2d090820b939 CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0a21b3b-a32b-4acd-8b69-18c28ed19950 CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b6d43e-5556-48c4-9a5d-8d6bb75cb16f CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ab8210d-80e8-4320-b139-5090c186d4cf CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c04929e-b147-4ded-abbd-22af4f72cd4e CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0fa472b-d308-4f67-a122-6c7c534499f7 CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5f46b7-4e55-4ec8-a325-9c4efde4ee37 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5467530-0c72-43e7-840f-4d3c4f09fedf CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d24f91-9920-4643-a9d6-a2294b68a1c8 CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7f0bcdf-122d-41d2-906a-0b97783b1dde CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbc08ab-fd71-4867-b6c8-916c68487c3d CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c691cd8e-1b4f-461c-9702-a2b2f546d89f CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240f8408-3551-48f3-b0bd-2f4b1c8e58e2 CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c25f3afb-412b-46b3-b5ce-b53636ed912e CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3f322c-ade9-474b-8cb5-3a10e726a4a9 CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 381a1b21-68bf-4f7d-bb05-76482e61a242 CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28be3353-6ddc-4b57-8c6b-7530e66d630a CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afb917be-64ed-4d69-a508-5d0c093b2981 CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd8340b-65f4-49fc-af5e-ad2b338c9671 CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44347020-975b-4eff-b18b-b0829892a6f6 CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122d2d1f-6ac0-4952-89c7-f96046f8ba38 CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9857e43-c26c-4604-8104-484a5ef8bf71 CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626b6dda-560b-46a4-b0ed-9ce722698eb9 CAID:CA32685503 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70148e2d-cd56-4156-88a9-adb46a688f72 CAID:CA32685503 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629126e0-f836-4d07-bbe0-d51c6c00eda7 CAID:CA421938581 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69dd8ae0-2602-45ce-ad25-a1e6535d3bb4 CAID:CA421938581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d73ce474-27e3-4b6c-a70c-234a3abfcbde CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbf96229-9a38-4770-ba48-9d8c0de1b9b9 CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14af02bc-909e-4896-8d1f-75b4faac5c32 CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 428c43d4-7588-4b44-ae00-1d7d2b4eaec0 CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d94dcb1-7fbd-477e-bfcd-b38394b75db3 CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bad9496f-26ae-4746-9219-d60a261acc9c CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0adfbbb-8497-44f7-97a9-ff0a1d49f991 CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5cd43de-f2b1-499c-b501-090bbb16b32a CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d2f6b6-d84f-41cc-bd7a-6d271720b8a1 CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca6d5e97-6edf-458e-8f0e-dccb92ba8d9b CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d87273b-c9b0-41f3-b551-2d791297fdec CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebc6d98b-e70c-4c6b-8159-e6fccdfe0fdb CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae33e121-d4b2-4e0e-8931-cfaf0e8407a2 CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5f918bd-d87a-4192-a91b-609eb8cf3c97 CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5509c8b-0ec4-4d6a-8e13-3eab70ec64ab CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c9a033b-3d9a-4dc5-b250-55273a0cefc0 CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbae9cf-a866-4a26-8053-91c49373ada3 CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a20a572-765b-4342-962d-ec549b14ce28 CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0b7558-1e01-4a9d-a132-a8f0c9f6683f CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 261d88e4-9e45-41f7-9798-c9e213066e62 CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d5a5c2-96a2-4344-9ef4-743dadb4fba4 CAID:CA1244048 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df493562-71d6-433a-9f3b-ea62b111b60d CAID:CA1244048 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7061eab9-88af-4be7-a515-c494a8a848a0 CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35fc0746-c492-4747-9d13-2e7bdf1a89ec CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05772990-9a51-48d6-a808-f0b268af8b9d CAID:CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef93905d-eddf-4724-88a6-4bf6a00a4215 CAID:CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b1f158-c0d5-45f3-99fa-fd747a996e25 CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dbd68af-c8ff-4260-b6f1-98db3357f9b5 CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f9872c-2b51-48ed-ab8a-c21a22841ee4 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4298b960-3d07-44ef-816b-2b84bae76605 CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4f3292-2aaf-43e5-ba1f-1b5b2e253e80 CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdc9d8d4-cbb9-4cae-93df-bd5d98c5b815 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5af2aa-7de6-4878-8c2d-fd990770d51c CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43c1bb15-6b21-4ad7-86f0-d0742151601e CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4104b3-0bce-452e-b504-1d075587cdae CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 385fd8c2-29c1-4044-9e53-1864ccd27a0f CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcd8ca6-ad0a-4672-9e94-50c477a62ba1 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8fc3dfd-eadd-49f9-aef0-0579e6b9cd80 CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9f82ca-8411-457e-afe0-ce122ef12214 CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78588d67-2235-4386-ac92-78e8377e9b2b CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ba70e3-1098-44d4-8f4b-453c0c878f6f CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 434cfaa1-ecf5-4668-bb74-40ae23b8a9d3 CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fea43d5-c35a-463d-bc82-c5c08631d98e CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a8ca60b-4ab5-4c7d-a6d3-b53e05aa69ea CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5f800f-5a3f-427a-8182-2ad3bd6e8b86 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17279a10-5f9d-4510-9795-c659166c223f CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fbe96e4-0b3c-413c-9877-cc014a8c9a80 CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c3b0ef-ffea-446c-91b6-ec8925935d7f CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d78c0ee-34fd-4f67-ae12-a8edd7cdae6b CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25edb75b-da6f-4468-8cf4-e9a6dc6a9f9f CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccca75f4-e21d-477d-86f8-6cad475fdba3 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8190c2f0-bf5c-4d8a-908e-7d98e7aa4beb CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28e788a9-8da8-4424-a843-08e3fb2be361 CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff436f2-39dd-44d9-a62d-0c708d427913 CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d3b24d9-6b9e-41fe-a7b1-6f65e1f3720b CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513665b2-a9ad-41f3-94d4-18686dcb7b3d CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc0e2125-afc2-45c5-9814-c55a17f99c3e CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69c10882-a9cc-45ce-8436-c123a7c73fe1 CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 276060fa-633e-4a67-89ca-06747f3f34f3 CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709db1b4-e0cf-4252-b7e2-fbc5cfd14f0d CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bbc456b-1e3e-46c3-988f-0a38774f9834 CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643ee31d-5a91-4f90-84e6-79ddb6b32b2c CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5731729c-dd46-44c2-8b92-de8dafd93a25 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43bc65b-d09d-4aaa-bf50-f41f87689736 CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d54f28ea-cc7e-4507-b079-7fd59e99aa1e CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f6ef55a-7a4f-4011-ada9-925ac2cb0ec0 CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36f6e6c9-ca2a-4960-8d99-1896965e7c51 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bcfcaa2-c477-47a3-947c-9a05a0e4dcb0 CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd46de7e-d86a-4068-a3d1-2114e0644e9d CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89dfd5be-ab14-4ecf-b8a8-4e2922c9f4f0 CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8560e1b2-6cc5-4b35-9a87-971eac1ce6ad CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5125ceb3-8807-43d8-ac17-bbae4a0c4e85 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4b85477-e570-42da-ba59-e0ca79e9007a CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54abf2ca-38d8-485e-a2ea-5de8a3590968 CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34bfce46-b7da-40a2-9e66-a415d6c5d134 CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f9707e-ca66-4b73-8f5c-0393c4ab03bb CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8d1b79e-720b-48ee-94b7-f628c8614a1f CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b45d17-50ce-4e48-af9c-b1c106434da3 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb4ec749-2add-4c7b-9a17-1501d1954af2 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3b1cc1-c954-4ad7-9692-09ffd20bc772 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b794f5e4-2a18-487b-a75a-97b7395c091f CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ce3c5d-f554-436f-bf18-714ecefe070f CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f7ce1ee-8c1a-4cb0-8ce3-28f2466c3bf8 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f375cd36-c497-4737-bf40-94877d69cb58 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27785aa0-7f33-4712-bc23-81b8fe362086 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d86afd8-5551-454e-8faf-e2ddfde80ba0 CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4ab9465-4b9f-40c8-bade-60555af3df74 CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d0c39a-09bf-4c61-b57c-3caa6391e517 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43ed342b-e5f7-4195-ae96-f92044f6a7f4 CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2006624c-e898-4ead-b97b-e43537683384 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38660f66-3eca-49c3-b707-7deb5219dd75 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe8229db-b858-4b41-a8d0-4b0115e005fb CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24a0b991-90b9-4e5f-b03b-5cbce1380747 CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fe1da0-0a66-4bb2-b424-acd8f688afec CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff66a8fb-1179-4c6f-82e5-069089301e06 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0d6997-9b92-40cf-960e-fadd1c03fcf7 CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f9f01e8-f86c-490a-9db7-e8eb6d59e808 CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de03d81-f034-493c-bb4c-7d054ddf427b CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0538fa8c-9b4f-4d61-a2f5-dfaf22b064f3 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab852db-de88-4e8c-9dc6-6ac49aaf3d5f CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4b8b531-bef7-4676-9421-8aa70174aca8 CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c545517f-6025-440f-ae35-bdf57383315e CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 668032c4-1dcf-4f13-97bc-485633ca4466 CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0495c1e2-eefd-4cb6-b7c4-475cb8f9733e CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41f298e3-e600-475f-be54-d43e6f015c32 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139e8aec-d28c-4b3c-b976-3c25532dfbc1 CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d2e7b16-74f9-4def-adfa-c52fd8344fc0 CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd1b3a5-a26d-4708-9e66-01a9cdc27109 CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen def32123-d806-461a-ab0a-d817e26d77ab CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c0bc6c-cfbc-4fd4-b044-5daa2814ffd3 CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13cb8596-1a0b-46fa-8bd9-057d07e3630c CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25c5a3b-3428-410f-bd81-55b4ad5b330f CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 575657e5-5088-40ec-b5fe-65f19860bd01 CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1027e8d4-0524-4860-9efd-69e708a320a2 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2233b276-4ea8-487f-928f-6f96b486644b CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49a63ed-9e27-4ed3-9cfb-08fc6f9ef2c6 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0ec0b20-ae11-4211-ac74-f047864e4683 CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0118d6c-4434-4886-9418-4f3435d4df0e CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba9aff8d-5037-45b4-b502-5e771d2a5352 CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2cf3a24-8cc9-432b-a333-54fc280f300b CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fec159e-8fb2-423e-bc49-ac78ed486055 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323a928e-ae52-4998-ba75-926e7d8c8013 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 393010f1-9e36-49a7-9f31-450f0c7e39ec CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bc12fa-7a92-4cad-b72b-12f9f2e1feb2 CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29156afa-afef-4d70-975c-2dde35720ad0 CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b55478-f48c-47f9-b676-2a8b0d38e18e CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e11c632d-ab86-4af3-a399-da8115e558e8 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63b4a2d-9cd7-4059-aaed-4e0f44d916b8 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8ef6823-6be8-486a-bfbd-39884177634a CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa2b641-cf77-4ef4-929f-73fac4488675 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 372724c2-70cc-49a5-9f4e-81d5a8384989 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc9f4e5-f966-4f65-b305-3b35dbaf833c CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3498f6ca-103e-4779-a652-306eddfd4ad7 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db538491-ad74-47e5-91cd-3c3204ef4a2f CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7244aeba-b3fd-47e8-8e7b-7f1e7d5eaffb CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fface02d-b240-4d2d-b68b-8eeb4e528a92 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac37016a-a720-436e-a2db-b6979368bf05 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182dea05-92a5-479a-820f-1a628c370d3c CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4774d20e-bf6d-4a6f-96d3-ceb441479499 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ea2579-2809-438f-9279-6d373437befb CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55cf50d0-d53f-4298-b482-843f39086cf4 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f050f7-3d81-45ff-b0f5-c60268963851 CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f8b871d-9b81-4318-98a0-2a242ce15bde CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a02cac-865c-4d32-94c1-91a07182589c CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32343370-0a8b-484c-815b-5a2d611a4620 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cda28e-8a41-4ecf-9345-3d3152304ebd CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 425587fd-b277-4710-878e-21baf4a9afc7 CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdbe6e6-7425-48c5-be16-d2290caf2346 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5d28512-2722-4104-839a-f54ca93de97f CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593ae130-aeb3-4f48-97e9-b051b140b541 CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beee4169-4a03-49a0-87ce-118113df6116 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64b6f07-bab2-4ee1-a1e8-2ad6bf80429e CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94673e2e-f950-4c47-ba50-be85d69788b9 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f36a07-e2d5-4e90-aef6-1ff266bd4866 CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a88adddc-58d7-4a0c-87e3-83900ab9a6da CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a63dd73-def6-4c8a-a070-29a0bd2392c0 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f50ef135-9715-4031-8214-d02f7da16123 CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc52d61-cc6b-4189-aa85-327f0be173c7 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41f8314d-9840-4408-a1f7-6930dd11f55d CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e46451-b5f8-42ea-a37c-adf7a2687746 CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b54585f2-429b-4a75-ae2c-0ef4a78d481b CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7564d790-31e7-4b1d-accf-ecea0f39f98b CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecebce67-1c23-49fb-847d-a14c8e838eb9 CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e0bd7c-72e6-44eb-8979-b1024806bef7 CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 286b6051-6413-45a7-8190-53049ed59420 CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672a9ab1-d147-4936-b59a-d3dfc47fe173 CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc3a857c-304e-4643-90a9-229e0ec454d7 CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852a74f2-d38a-464e-bec3-4b567234a650 CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a94c2aa-698c-4743-8bb2-c200d35e91b3 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d298e90c-82cd-40bc-8473-5c980fd998ff CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dbf74c9-91ab-4904-bea7-285fa8972e7c CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30924aaa-d6f4-446a-b7dc-241b98d7f488 CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc232a0c-d876-4dc2-9010-b3d6be3934ed CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f615c3-abe2-435e-8d3f-1e6c6f2a739f CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 742e9832-c9fc-4f94-b0c4-2a48781fa75d CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d278b1-b184-44f4-a353-96ad1d35f800 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92e51b2b-1ca5-4090-9622-7a3a15960f88 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07769ae4-4358-4657-bda7-8f6ee1b368ad CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9baf491e-05a1-4acd-9c31-8d5b6e1d2d67 CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d1383d-31a1-4f5f-bbdc-f0932f83a9f1 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0562c9f5-1447-4021-a1f4-aa72c480d765 CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a19533ad-5c4d-4871-a877-89ee09c396f5 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aee86cf-633c-44b8-9be4-3b211edfac3a CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0c9ec9-297c-45ec-bc25-8739e780f5cb CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c10be5d-c885-4e9d-98b1-73f86a414d21 CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab6c4ae-40ca-4988-980b-f8cb96dfeb0e CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b764fef8-2a53-4078-9338-5d6fb0060bf3 CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40129448-73d2-4ef4-9fdc-08093e86e351 CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 033c96c6-3669-483a-a05b-e40f361d5aea CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7acc180-5185-4b87-ab15-97de54cb5cb0 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1ca475e-2225-4a95-9ca6-f75833d909f1 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5ce9d9-c5ea-4edd-b85e-b2e0201f9474 CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 940fd0c3-3c5c-45c1-b466-8b2285fc8833 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a691066-d947-475d-aa40-c24ee5fd0b20 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d2a402d-1481-4dfd-9a44-298b3f7664a7 CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd54272a-a4e2-497e-9b74-9adb0b677d8f CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbcc401a-79c8-4427-abf4-a688e790bdf2 CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99144cc4-3628-46a8-85ec-7b5fae1172fb CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ac35945-0cab-40d7-ab91-b904fee96e60 CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c691eef8-d6ac-4e1d-aa47-bbf3ca2496f4 CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc320f24-6be7-4bb7-984f-e91e0c65a582 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f46e14a-a000-42be-b417-f7233d74783b CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31bc1f31-c212-414f-a7a4-c2b7f7f42f7c CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4fc98f-8a1a-4b21-bd6f-fb1aece0ead1 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad29c59e-bf20-4331-a65a-ce85e8d27d04 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51eaf360-f58e-4fba-9dae-8b6bcba80603 CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb78a0fc-df4a-4003-bfc5-fc0233bb41f2 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777ec567-1306-4312-8901-42953198f81f CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 239f7342-c033-48fe-8315-7399f267e743 CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1129eba3-9906-40fb-8d8a-c082097a3f81 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f938aed3-6476-4690-b0a2-9e7ff9228286 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2540c6ba-9e1f-4204-ab4e-5522e82568de CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f462f8b1-891a-4703-a874-dbb753dc2cbf CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e38878-31f5-4ee8-a1f9-aab009ac79f0 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb559c88-7e56-4c6f-b49a-367467595316 CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bdb6e3-e244-407d-b26e-557a8a641dea CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01f12e5c-b6cc-47f8-8c8a-e689093633bc CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e849ddff-a45c-48eb-bf35-fdfb94a0f42e CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35926b07-f875-4a77-a616-eee34a4ba9ed CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043cdf05-3762-4c8a-9921-8900d9e79054 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d001e521-b302-4ebb-9e57-e0f182f2b599 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30daf1e2-61b8-4c1f-8d6b-641ee9f884df CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db73c420-380b-4394-a153-f034b7a79c7c CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dff0c0d-d598-47dd-9ef7-9e6257588a76 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d23d11d-0342-4e50-9f4a-3d0d71f291ff CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07775dc3-e522-4843-b2ab-22ae7b377ced CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c2b14ec-cee1-4049-bab0-3c49d192782a CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e6b2b1-07a6-4a1c-a6e7-eef5eb198d4f CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c63abea6-b3dc-4e00-ad40-ddce41be220e CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 844b2b56-c0a9-4aee-a6f6-66395cab7fa4 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0731d638-287f-44a1-9540-fbe5aeaa5f8a CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4a36c2-4cf8-4120-81a5-c59b19386136 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89dcdbbc-e82c-4665-8076-21fc890990fe CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519069a3-32c1-4026-97b0-6b6717ad4367 CAID:CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0160e021-9a9d-4602-86b3-3cc3d427625f CAID:CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfce6d3-bea2-4dde-b90f-289da1b070e6 CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfe7e3a8-8bd6-4aab-ae5d-0dd554fca735 CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8eff47e-b73d-4205-bab1-c9867e1a8b46 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3d27b2d-4380-46aa-9809-5f7f12f771a8 CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8d7e7d-89e2-4feb-ac14-e3a4633b5082 CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdd3c93a-98b9-4f09-a1dd-b717de4aad83 CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9a418d-c8f5-4d6f-b209-3a68686557c9 CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4288f66c-fec1-4716-97c9-3b62ef3dea91 CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5acb30cd-32a6-4275-80d3-a0ecc16470f0 CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27c697e9-54a4-482b-a537-c246e0aa63a7 CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1c8ba9-5145-47b5-9490-14465118aad7 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a89fe29c-0133-4467-89a0-d33df791974d CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bbf061-7fd7-450c-92c0-cb2cd6d995c6 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a702181a-8258-4f36-9353-e04f554e71bc CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ca6c27-407e-4a85-b559-f88333b95c95 CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e9db291-c288-4e17-b594-3d92d4a36da3 CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fceb3fb-3755-45cc-b6ae-f9d5859b3542 CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce55f13e-97eb-45ed-8c2f-e6fdefaa2d96 CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf0bd0a-512d-481e-ac6b-1c3d191abbee CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e43e7bcb-4881-4dfe-afa7-4c9eeca3c436 CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47cc5a9-272e-486e-8048-71f9f1b99427 CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85c2afed-942c-4982-8734-4f7bd5170b1b CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad7dea1-43d7-4c43-b7ee-181739f8ad0f CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7410c68-4c5f-4828-9086-56339a89e7fd CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8da251d-285b-4c6c-bda0-fc070312284f CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d40e8e7-e2d9-457b-abe7-f806c862ede4 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9474132-d2fb-49b9-b84e-a66e2f0177ca CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77b4b818-8c68-447a-bb22-3cf294faba14 CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85960945-311f-4545-850f-96f2ff054769 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14c461ba-04ae-4dde-bbcb-7762b0719085 CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206dab79-e659-4339-9891-cfa9c9a3599b CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0926475b-bdf1-4fcf-a848-1f7fb73c8f7e CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f81cbe1-da4c-427c-90d6-0c551f79d8aa CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8697f0a7-4227-4917-b414-cf2f6a96de09 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914278eb-fb4f-4214-9c4b-2eb7442dea3e CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ee573b4-ae0a-4c42-8747-0f9af4f693a2 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffb0ee6-21bf-42fe-9dad-b336c7af7eed CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88fa8112-8e79-4662-b393-8671c5bedbaa CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562aa13f-e35f-497a-8415-cdda98be26c5 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6192885-d155-4803-bd00-36c11230d71d CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f56e9f8-8c31-4532-b3c2-52e9f371bc7f CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bedb6e85-0ce1-4c21-90ff-b4fb8fd934b2 CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f09eb3c-f0c6-4ca7-a214-14c698dd7757 CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3511b52d-fd02-48a4-9142-b1396b6d7d81 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0089e748-9421-46b2-ae39-17e04c78716a CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29444d1c-7343-468a-a18b-db38b9c3ba21 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8ce547-45c9-4139-acc5-b4bab6d44a5e CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fff4feeb-5f50-4b08-b12f-c944b767254a CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c04870-a844-4998-92d1-f2e0ca179c8e CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27aea16b-a1f1-4d5e-8ec2-749892cf4fbb CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e306461-331b-4fd7-b959-05e4aef81e55 CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0db3cdec-6eae-4acb-b74a-622954c7d40d CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a4853b-52bb-4223-82fb-110f57f27db8 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c861dbc6-f4e6-41f7-a93e-52582c95251c CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de974dc1-4c46-4dec-b80a-e71b7e10476f CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f0f2020-09c4-4e01-99f7-ca181788e18b CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ee66cd-3ec0-4066-b944-e04708107587 CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4868b9b8-8dcd-4f22-bc08-886a975ab1a8 CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c475dd-d86e-44ed-9736-eb851ccd79ff CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e8f7466-0818-413c-89d1-f00ef0ba09cb CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbe633d-09c7-41b2-9be6-c64f23dda5cc CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b67e9c40-345e-49b3-b3ae-9047c4c03994 CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95181240-e6da-47fd-94a1-e00851985a64 CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4f8ffd2-1bc5-4cd4-bd44-1a5036a6751f CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791f40c6-abfb-44bf-bc00-956d44c7cb70 CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbde2a22-1cca-47cf-9d62-a8da793f1510 CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcbd97d-0549-4706-82e9-9a9153947a5d CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3f83292-e237-4f0c-951a-29a62212a38e CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2e617a-2a91-412f-9e6a-6a1f3b31480a CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d306f69b-f037-4b21-9b55-9685aa544268 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594b9e95-ef50-47c2-90f0-f93c1ef21505 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bfc3070-287b-4bdd-afc0-2f4cb413bf78 CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9d382d-631a-4065-8819-9d5fdecc5af8 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d3858f2-7f76-4e97-a7cd-91a72616b0e0 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb636b9a-7075-4337-a2ef-401d8cc72613 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eeb3c38e-c41d-48cb-8d02-78ea49976d66 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f402ba3-9d2c-4739-aa0f-72e6cebfa0db CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92ebe251-8ced-4325-a52d-7a99a809ad09 CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2282f2-e06a-4e5e-91ef-b323ee1c62f0 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a3687cf-48e0-4b1f-8e70-b2ff5d200341 CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf1b2ab-bbc6-4f60-b028-f83dff9c21ad CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07477b90-b07e-4f6c-a77a-c2d93c3c86fa CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f112c2a-c427-49cb-b839-94141abdebaa CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b3d14c2-37c7-45a0-ab2c-122c366e088b CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd64a8ed-1b6e-4475-8049-84bc9521c0f5 CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 081c4d76-a1c6-49d5-9368-3ea1a008356a CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a13f42-2166-4904-89da-3f7b685b77cb CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ee94c43-98ed-41d7-bebf-e543bac93dff CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1206c1a6-e407-4a21-8622-bd8c4469e313 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27fdda45-1b7f-4d3f-a56b-234826cd3c36 CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc829720-17fe-4a96-b406-cbbb026985a4 CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e726a2c0-ebdf-4cb1-a8ef-98120d37ae24 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbcc6b0-54b0-43d6-91e6-ff93b3f4ecfa CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 783bb039-4361-4243-8e31-0be06705aa17 CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda160a0-eecf-4fed-aa15-94acc3b0b6d7 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e1a2463-2606-4134-96ce-a5fd086f8dcf CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf46676-39eb-41e6-b6e8-f95f9a602720 CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19af7191-135d-49ce-b711-a5849aedc576 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7d5d91-932b-443d-b4c4-b8d630499f5d CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5adb18e-d2d8-4056-9adf-fff268329d77 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b24efd5-c7b7-417a-8878-d0865f969299 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a66d4f4c-9e2b-47a3-840a-0b52e3546908 CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57c609a-9da6-4fce-b4a7-6b23edf66402 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b5bfd91-befe-443d-9701-7ea066660f62 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1d580f-e841-455d-82a8-42c5187d69cc CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd808521-9000-4c6c-b6cc-4fb3345b7f9c CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c00be3e-a5d9-4ca4-854d-401f53d24e57 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97078a62-156e-44a4-9950-732672c50a58 CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61b18fc-9235-4824-908e-a6152df543de CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9516fc1d-e190-42c8-abc5-4d3c6e6354ee CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9181f2ca-4dfc-4be1-b627-cbd2e1730484 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbb0a662-bded-4c87-94d1-1b83ac3345d2 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7a6026-64df-4de9-9e99-c02a9d8e418c CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca68fe51-d557-4f1f-bd18-f93c1ff3d84a CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9704d2f6-a48b-4dba-b4a9-2158fad12b55 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edad8e1a-9cc9-42ae-9ef1-dd418c3efac5 CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd71e2a-96f0-4e9d-8e0a-d0ddc6d3b4e7 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5160aaa6-b7a9-41ca-9755-cc544e336ce0 CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5132b09-9dac-4ff6-bcbc-eecb308a4231 CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de47e506-a8ce-45e4-8803-c045b5a28907 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263a1d95-e2f9-4f4f-a163-e8eb7d55a1ac CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dbbd0a0-de46-4194-a37b-2bbca9d47162 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74a6d9a-01d7-4ecf-ae6c-14591a1e150d CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7ff6662-47f8-4d2f-be52-9b513c206a97 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc34cecd-4f75-4687-978b-8f7cea35ffa9 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b6623d-da80-4556-9984-c9b2170089e9 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb2f675-e25b-46ec-9724-57d6dcb4ca23 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc3e9fda-a4e3-426f-a717-e245f316fe12 CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29c115c-e50f-4f4a-b1b4-fea008daf5a1 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd1aa2f9-b9d5-4ffb-871b-84ff64923f56 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a36120b-0b75-4279-9b53-8a694aba8c23 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7201e380-d762-4ca4-8547-17122a2a1cb5 CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde5c0a6-1e9e-472a-a65f-2f378cb2f408 CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3a01639-04ae-437a-8088-72e6cc34a04f CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a11924d-c599-4ced-835e-ce95f7d84387 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c94c4c47-9499-486d-b289-526bb884b422 CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b29a5b-0688-4188-9151-4a38aa08db6a CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2a06622-a4e7-4eb4-8303-49c6b28e8d16 CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bd3a00-446f-4622-b4fb-b20d7b0feaed CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ceebfe1-8192-461e-9ee1-9b3f5f72c2ce CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0189da4-145a-4cd4-a1a4-142cc350d5fe CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7516f081-5d1e-4cd0-9564-b8d249cd11d6 CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf46afec-d74b-4298-8fcb-96022e5ff01e CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70257276-315f-45a9-9e86-d55c1bb5103c CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435272f9-859a-40f8-864a-f220b9987f82 CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbab215e-a4d9-4aa9-9838-c73362f7c097 CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63857e7e-650d-4371-a0ac-e41ca86ca8dd CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6542dc9-4f89-40b2-8cd3-c62f5a06807a CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96daef88-9774-49fa-a63e-dc5a15bf6e7f CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80ec9a37-37a9-4950-a99b-1cdd532cc9e8 CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffded1d1-5a57-4171-ac44-b40f14c05393 CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea1db6d7-958e-4d83-a108-ba313d4ea20b CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76292779-558a-4589-8a73-d6d7b1a8b589 CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7890d6e0-0cdd-45f9-b4b6-2afb1b0ba7ef CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717d1370-7e9c-485e-9c7e-f4bad60d532e CAID:CA343724007 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06f3a353-44a2-4b78-a3c0-43ae98f849e1 CAID:CA343724007 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4a7a74-713c-4e5e-b944-c1d27ee4acca CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36db969b-a735-47f4-bcb3-7686fad937bf CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576643a7-a773-4c2a-b436-2147ee1476e0 CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e19c0c34-96be-4722-b4f5-2219f8408152 CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b286aa63-0e8d-4b7d-ba38-91c97293f42e CAID:CA1244037 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2222ed07-a749-4d85-a998-88793eb1f296 CAID:CA1244037 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a896b09-0b85-4144-a081-c2fb310c8a68 CAID:CA343723116 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe0d9532-05b7-4387-8677-46e17f613d47 CAID:CA343723116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e7db30-a91d-46be-8fa5-b84957a11e89 CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b31bb8-a64c-4aae-955b-bbf5be0d3776 CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215beefc-7236-46cc-9de3-d0c5ed8b3379 CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 041c8965-4484-4991-bfbc-c9825ab3f71f CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d8c008-60d6-499e-8428-a4d8f7cb221c CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87db6e6a-78d2-4122-8ef0-d7391fa15a72 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6cad70-79e8-4486-9094-4b8d20a2abae CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83b9b030-fcac-4fa2-97f0-f72377a16e58 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16bb0fe-64e3-482c-82d0-fe24591711e8 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd37e66c-57f4-4008-adb2-373118515623 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f4fb1c-e401-49ed-b2b5-a5607b1b1c6f CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c10b5c8-6f07-4401-8d0f-0f75ae0fefd7 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56c4f50-4b52-4fe6-ae94-efc239298155 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a82f2311-95c1-41e4-81e1-6ff4932a6602 CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8ff103-1760-4c5f-a111-0959f5f3e136 CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea6e7715-2d72-4ab8-9c44-249242cc3469 CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad820429-2b26-4b5d-b129-d4b693fa515b CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f58828db-34cf-4eb1-b39d-63c6ba6c0e8d CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e288750a-4b17-41a0-b310-f4f19c093b21 CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd699d2b-bc3d-4e48-b61c-809f35192e4e CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f538d9bc-5dfb-47a3-a7eb-1766d6fee166 CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e66c183-96f2-4054-9bb4-69ee2388fd09 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6efbdba-340c-4831-bd41-f39ee84dd95d CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5198834d-d546-4981-9620-cc12a9715b76 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786de78a-5b7f-4b9d-a3ef-ae35f5a1cb17 CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 813cd063-bc7c-48ba-a45f-6a254ccd347c CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a8f7b9-5abe-458e-998e-1ab10bdd692e CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3579ac59-f18e-4b4b-bdb6-1d9b5e4bff61 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de97c02-1cd1-42f9-8c66-88f1c1647cab CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad654d30-8006-43a7-a3a0-88b8fb89cc48 CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e49a6d1-ec7e-4f90-9049-089e665db707 CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbae03a7-92d4-499f-9946-7a1777737020 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51dcfdf-746a-4a49-ae04-a7918ce8fe59 CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e477bfd-9fc4-4bd6-9de8-fe8ea864b292 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21d0c06-2bae-42e6-9f7a-8f3f75c973ba CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fffca573-c705-4345-b085-4656079b14a2 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c75c785-de39-49a8-b487-bed6d79aa077 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e239794-ba85-4dfc-bd69-ee5ebf9efb11 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3800bef0-1042-4db2-bc71-d5150f25778a CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1add695e-15f2-43cc-8681-a5141909d861 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e67a2f-8941-4e7e-a06b-6a6b9904bfe4 CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e7ec063-1938-42a6-b4d0-63a4039fc206 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21ccea7-cdd0-46f6-80a8-18e3ec0a5939 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f85586cc-27fb-4771-899e-8f7346c71d5b CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9aee10e-0111-497d-907a-e8968223fe23 CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a495c100-15ac-4662-9f49-4ddf38d0d5de CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ccf690-a5a9-4946-a698-99afc4651c89 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5633f6d-93ce-42f5-933f-186c4bfadd07 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459dcf35-6482-4c4f-b58e-cfffaee05b84 CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67c80a63-4d8c-49db-91cf-319e9a611bd2 CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3c7c5b-d8e3-43b8-95b1-aa4af5f75096 CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28aa5b7d-9cbe-4525-a778-5c3907d6d4ee CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4f5fa9-31d5-4d72-93bd-c07626a4f3a2 CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01b86198-245b-487d-a3ba-0fa6e94d7dc1 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b74d24-bbee-4704-b238-83c31118e150 CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eda70797-f59f-450d-bf5e-907b80e632c9 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fc144a-1e89-411e-b9ba-dca937fd4e15 CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f632583-d9e7-4d70-b076-202b388ab908 CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb75643f-6ff4-4e52-9867-3e95f0c594b9 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9699c5c2-2563-4ec0-af7e-de69d414adff CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136bc352-73f8-45c7-b149-d3293f7fef42 CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c54deab6-9506-456f-a7fb-eb921219f8fb CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad4f528-ce16-4998-9b2b-099129a8e789 CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee9b6039-c148-4be3-8a5e-3493e9569421 CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee9ebc7-012e-4ba8-83f8-080fa693e713 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5026c5d3-7bd4-4e2c-bf73-e1006812d479 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51dedfae-d44f-4653-b8c2-983df1abfd32 CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de8973fc-58c2-4fee-b0d6-30d52539bffb CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002213de-47b5-4241-a886-d982edf296f0 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ede9304f-bae4-45b4-9bec-740ff1596bf8 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9dd46ee-cf14-48b3-a2dc-b63719106595 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6361519-5f43-49ef-ac6d-f86106f53210 CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b1a74c-242b-4cbb-abbe-18d330bb3072 CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f720140d-d508-41fd-bf63-bcc2a6007bd6 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66cfedcd-289b-48e1-a5ea-588e8d6f8925 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c31bcc40-b65e-42d9-b5a0-f233bb188c4e CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4a042d3-9be7-489b-b262-8eb008923adf CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01074d05-ca14-4708-b8a1-75c4dc042fce CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a8beb3-9caa-4982-be34-599f77d31adb CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 843b5b53-1079-46fa-9af1-a7590da33e16 CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6c11e6-f30a-40fb-8cd7-bf1bc9100d47 CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab50d4c4-56ba-4ee6-a1aa-4da48e525814 CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f13626d-ba66-4250-a35b-50e476a0a989 CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a92d071-aec0-452a-a627-1d4e79d53ff1 CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b4ca06-3798-4da6-9c65-e165417db658 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 948e2541-1489-4cb5-bc62-63345f661077 CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326608ec-565e-4bf8-8b54-2b2662802977 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df0aa100-8aaa-458c-b516-2a5c042b81e7 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28549a6-9de6-487c-a531-21001cd125fd CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d44d1da7-31e5-40d2-a28d-abce7515e4b8 CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1695d64a-c207-4222-a003-b8e2be60a199 CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86117cfb-19cd-4186-ac1b-85e68403b731 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485b9a67-eed5-48fb-83d3-75d5d0c985c0 CAID:CA8622972 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53122697-3f48-4bc8-bb62-e62b753f2a43 CAID:CA8622972 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b54642-c1c1-4b6e-a4fd-a52649f029bb CAID:CA8622859 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e96111b-662c-4baf-95c4-4b4e9e033ef6 CAID:CA8622859 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9457b2-304d-43b5-9a43-28d7cee46886 CAID:CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a710282-1f73-400a-8a1c-9ad94dda076e CAID:CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870dc9de-a02d-477d-a2a3-9c4c2cd33492 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65203d03-6eed-4391-a01c-beacd897bb7c CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950181ea-2372-42fd-af2d-106c919fdc51 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2809a89-8608-459d-8fb3-4387b478f7a1 CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0688f3d5-680d-487b-a0d6-3dcab9bda0cd CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 569a5a49-3150-4121-9ff3-c9c1215ef98a CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60badefa-0a2e-446a-88e3-8ecf05f21863 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f64486ba-c200-42f7-9bdd-c1584736991b CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50dc42fa-e0fe-4899-be28-945b40d02647 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0bf4ad3-8159-4988-ae58-00898069354c CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3572d39-d7a1-499b-8b23-e52528686743 CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b11f28b6-fe49-49f1-847c-156b08d26305 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebdf719-6d24-41db-a5d4-fa67ab540e51 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7484ac2-0944-4559-9d05-402cbbe409f8 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfba336b-6703-4de3-80c9-2e4f1bab6600 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4aa57083-aaa8-4136-adf6-d6ac134561bd CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766b319b-be8f-406b-b7b3-6f3bf3644056 CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e940e89e-10f8-4c02-ae1e-d8330b388caa CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e16d1469-0114-416e-9fa3-8ae7a48ad2b5 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a83565e-693c-4a90-9856-33701cc58eee CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77581d18-a981-4abb-9152-6aaf241bee2a CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 152359c0-c1c4-48e3-8f84-367adbb7f17f CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ffcc87e-0e3e-4077-97ad-4e94ee38451e CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc0ed202-7876-42cc-87e0-26cac5eb6d7a CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1549f-4551-4adf-b9ee-9886c1ca4ade CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1176547-9063-44f6-9423-d6ac74cabcde CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3a9531-9eb4-4000-8f4f-695bbc4f7b5a CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73b3dfea-d536-49d8-83f2-a5dd0bf4a1eb CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838b4cb8-4755-4202-b863-5d4f135d0e28 CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 764f2f2a-a429-46be-babf-aa5f52ac87f4 CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7213ef4-b099-491d-af9c-c070abc14ba9 CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37a3e29f-4f5e-4e2e-905c-9b76328af198 CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b11cb6-077f-4261-987d-7bd4b3d59a55 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 870c5970-ba15-4b61-9a0e-d48bee9079a8 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57295644-75f0-4fb6-bc80-58106ab1858b CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4444208-8ca5-4ea1-9e17-450e928c7204 CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b0cb79-bed8-4c32-bcae-5ff69d1e36f2 CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1210c4e-6ecf-44cb-8b24-43385d5ae98f CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9dc9fd-63c6-487f-8977-dcc326473b53 CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 354832fc-0a14-4288-9fa8-db1994aa365a CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8590ec9d-5e0a-4c3e-b22b-aab2a0dc8dd3 CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c91d749e-198a-40da-9c6d-0e8d0780be00 CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a14f709-e47d-4f74-a540-5bb969b8f3bf CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29fd7eab-eece-4e65-a2b9-d55fa4023dab CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd66d444-ce9a-4bc6-b4a1-d7e661e61197 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eca4b952-47b1-4e51-8e9e-e9e6669057a0 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef96ca0-7e62-43b8-af68-333b8310ea3f CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd5a85a5-0b3f-49a0-a527-4f8273b5db76 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0000b84f-1bbb-44c4-aa11-549a9de584e0 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12113513-5ca1-446a-b5d2-8668f1307776 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286f9f70-5686-44e3-964d-bfaead3b8d96 CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 586b23c0-de6a-4e4a-8406-42e5ec22976f CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41de814c-2e7a-46e7-ae36-7b7adf0bc00c CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cf71497-959b-4e03-8fc6-2c817d6fd2ae CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3dc5ce-2f48-4fd1-8470-9b37b3a29d15 CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc08ba54-bbcf-4a2f-9283-5cade22bf6f2 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae3f370-1ee7-4971-8fec-f34a7c3c4a82 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf8d11d4-42ff-4915-8913-a6d31782be68 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e23d69-21c1-426a-8a8e-86c6f90b9a82 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ea89721-1f29-4db8-8f96-add4c401c2b7 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f07cc1b7-5466-4bc6-8193-5053ba9a00c8 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 960b7ede-570a-4b97-97e3-f3c5a5500c65 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e5315a-b63f-4ccd-acad-7acf86a4c3d1 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c7a0cda-43e5-4e82-84cb-25285e023af2 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c033e5b-5b8b-4a32-bf89-acf092bf982d CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b29b1adc-15b8-4211-9a4f-11768da7cbab CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f83bae-d91a-427c-a035-345464691415 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cf634a6-6d32-4ba4-9242-59866664d7e6 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6588e0ef-5374-44d8-a564-e106a866eb86 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 916469a6-5922-4be3-b4c4-01cea4d0e0f6 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d42d369-96f2-423a-a816-92b4c24551e8 CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bdf2b8d-c40b-42e1-bc87-836eaa9c4a57 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba75e748-a1d2-4981-bacf-632b85c65b2a CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf52a64d-31bc-4d8f-b1a5-63d628867972 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19cfdfa4-fb8f-4cf5-8bfc-55f287c687c0 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0838ccfe-3402-4ff5-a1fe-340edcaa0ba6 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e10800-9643-4c11-8f06-18acf23f6b81 CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97c85d27-5425-4718-8440-3216af110436 CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8342c166-55e9-4ef0-a665-73e8ea8186b5 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e8f3d43-7e96-4b4e-8e03-868e71797a51 CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1782d1-ac16-411b-9301-e2bd1efaf629 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 180c5ca5-8133-4622-9aaf-7cea3973bb5b CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142f86c5-4f6f-413e-bedc-418dc3fb2a05 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ffd182c-21fd-45e2-8fd5-973c6aa57b31 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2185b5a2-6892-455a-af22-0bd84c9ca880 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39004aed-4fe9-47e7-915c-88728461a4a8 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33d520d-5777-4e10-b63a-c3224deeb2e4 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4a8b388-6559-4bfa-a301-e205f2f63e3a CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a757cd8b-09f9-4d76-aca7-31c8197f5599 CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d92c5ca-d17e-4365-8fcf-3a528eac86c7 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772b3d2e-7e8c-4a70-a3fe-dc0771158d41 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbab5b97-311a-47e1-8270-9d52f8e5e4ca CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a29da0-efe3-43f7-8ddc-42f936c600b9 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ebfcee7-7c6a-4745-8637-03c602fb90a9 CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd413109-3c5c-4503-ba6f-9fbf9f7b7a67 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 467f1ea4-666d-4ca6-8c19-a497425c66e1 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de87b456-850a-4d71-98bb-20a1a4ec758f CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 107a004b-c503-4f4f-ba00-156be8b0ffe5 CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f48e00-742b-424a-9c2b-c641eb94ffd0 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e32dff6-8880-4ca7-abc9-36f7943e6aa2 CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a52662-d2b5-431b-9196-ef8d42be53be CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f411530f-11d2-41a1-81a6-718ecfb5b7ea CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a612c17-cded-4138-a677-297bb1121352 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ec10769-7641-4fd6-9ec0-c39b4874f865 CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4745280a-3274-45f9-bef6-7ab03d9c40da CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73442c0a-03bc-4bc6-af5b-cedcfea88a91 CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b96db9-f9c6-45ea-9d4d-8d9f451030b7 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b243890-7980-45b3-8c01-f13e543f276c CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f3a7a3-cd7b-4407-b05a-f1569bd29bbf CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0af6f1e-e17c-4e2c-a6bf-f62649f30565 CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3b62c9-80ee-4f26-9f14-a2f47ec802d0 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bc00fb7-2fab-4c20-bb26-1d8e736793b6 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76acfa0f-2fcf-4937-8b59-703a5a545a6a CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93328a91-9286-4245-842b-fbd59ec73e98 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ae6059-5a68-4fe3-8276-1a34b56fec8e CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28d3f2ed-4d70-4f03-8ed7-035b94d898e4 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17329c6-1848-4e28-bbbe-8442d2ae1f7a CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55e92368-8fa1-4e98-9d87-49a0c8b0f136 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f754c4-e14d-4b94-bda6-530853375efd CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88050ab2-4978-4c68-bf17-92cca034a841 CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cd1781-abc1-4005-b785-3072d71b395a CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9f792e7-e337-46f9-88a2-08e12ec12d4b CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7fb88f-ae63-433d-bb30-fb75c44e5c35 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43068dd9-68d4-4ba1-8895-502ee19a6b72 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e6878d-b6fa-4c1d-aeba-9c7c2f0a9521 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab8a7bb6-48a0-4fd6-9f33-fc6bbbdc1f74 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fabd61aa-30fc-48ac-8dc4-bf25432898c8 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a794387-4f94-4b0d-97e6-563856ff40fa CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e689fcb2-bbb3-469d-b4e0-d0ba70bba195 CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e11d5b3-b409-4f8f-82d0-bbcd6ccc668a CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42074ae-a0cc-428e-b84f-f7f063dccee3 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa760a00-fa07-42b1-ad36-ae941ce4ed46 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c680179b-7245-4d70-aa12-077ecf165636 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23e2423a-8e91-425e-b76e-5dd55620392b CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b1b5d7-2dc8-4cee-9e1b-974c5ce9f77a CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be611677-5724-495f-9401-26fdd4f941ab CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e95dbb-e5df-41f8-ae81-e83a21b88ff5 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08efce66-cda0-4e14-859a-dd917de649d9 CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beaf79b1-c1bc-4356-b461-5fceed2ea54f CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a46c6d0-7773-49b0-baf5-17dcf1b2a582 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273a9b36-f4e5-470d-b064-7ca9fd4cc3a0 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f451860-c44c-4630-af0a-e5e31e70104a CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0615c5-2272-42e4-9721-7ba5c8944cc0 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af3105e0-2a67-487f-8887-655a1b1b906c CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ccecb1-9653-44e4-bd5e-aeca86fdae8a CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1aab69c-d191-4473-bc37-3276a1d5dd8b CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b3ed12-71ee-4087-a0a8-9d7c2b50c0f0 CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85a2e6b2-2bf4-449e-afb2-02bcacb4f0a5 CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4471504-7da7-4514-8165-661cecde00e8 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa7c1377-a0c2-4520-b698-054f52d43e21 CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4e30f3-d915-4a8f-913f-36aab671e298 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47e351aa-62a5-40c5-bd82-6d9501e94b87 CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f21c2b-5cf3-4b67-967d-de7ade499952 CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71928c52-2701-4bbc-99bb-8b621a61fbc8 CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed86bcf8-f0e4-42de-b6ed-bd1727430ef8 CAID:CA343724686 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ca94cb2-d4ab-44f2-b6d5-cd0cace5add0 CAID:CA343724686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc277446-e6a3-4fb2-b26f-a701a6bb054f CAID:CA343724606 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76b3c5c6-b7a2-4761-85cd-e1afa28dd3b5 CAID:CA343724606 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3915cd3-c617-4f71-ab06-2fc0b69455be CLINVAR:806282 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecd837e0-c551-4e7c-b214-cc39226a0e55 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb86a1c-1e6c-4c0c-857d-b8a4ede865ed CAID:CA343723939 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec0d3641-8a55-480a-961c-9bf8c73623fd CAID:CA343723939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9309fa67-2d49-4f04-8a86-6af62bf052ae CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cab87a3-79f5-48ab-86ab-b32d9d68fc69 CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4c92a4-db5f-411a-852b-405c6f5c1326 CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b5c402d-77be-4ffd-a3ac-519dfe26870f CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5c066a-7433-48b8-ad76-54b4d2b80845 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbb73172-5e0a-4d79-a4c0-be7a6c83bca5 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62892179-2703-4c01-beaa-3fa602d13a6b CLINVAR:1173106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0364d1e-2f73-40b8-9180-76e2ae4bea5d CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a46e576-01b8-4bf6-a780-2806846efa15 CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c605e0-21a4-41c4-948e-22f021e9bd08 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca23963-613a-4456-b779-9da3ef3ee818 CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c283054b-6a49-4de7-8ac4-b24b56255782 CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759a96bf-f743-499b-bb6b-e32e46590479 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89ab84c7-33be-42fa-8332-441b0d9cf1eb CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e856ade4-fe14-4d6a-90ba-b10bc9ed1349 CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff111138-8a3e-465c-b51b-fb7816474f5c CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ced0d7b-5058-4aa4-ae31-0d90b35b5352 CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0683940-5a62-4ca8-b9b0-c87558b6e523 CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a6d35b-b866-48c7-8dde-91533c209163 CAID:CA343723197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65e4277c-a8d8-449c-9ebf-988b2fd88f0c CAID:CA343723197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518ad3e8-459d-48e6-b230-f5e2a9547f5a CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a35eb3b-f0bd-4125-96e9-95a9b59d72a2 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355f0c63-daa1-45b2-837c-512669e90f43 CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40b3059f-2013-49dd-bc3b-cc14d48b4e2f CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05c1ef8-da0d-4705-9992-d4c31b5f93ee CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da0451a9-a96f-459c-975b-fa17fd338b62 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1dd2f8-c1aa-4e87-a9d1-cfdf96fb7e96 CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8f44e29-6a73-41e8-b268-003384975acb CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8414a5-0a8e-4541-a977-d531b7012e01 CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 523458ea-c095-4866-b98b-a5f58dfac826 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ea7193-db42-4b6f-a6da-ad3de4d826f7 CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95a3aee5-c44d-40c7-a7c8-71798a456d2e CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81cbe1b-a540-4c10-a83b-87ea949bbde4 CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ccd22e1-c1c4-41e2-bc9d-03b37b25f77d CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4167bfd1-a5ec-4864-b756-b7fc8dd772c7 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1fcad17-496d-4e8e-801a-30407f9ade1b CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec278504-d360-44e3-8719-d43ab561257a CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcbd54bb-f8c8-4675-8640-79ccc94b2dc5 CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba03be55-6d0a-4167-ae5a-8bacfb55662b CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e404f58f-ab65-4bfb-9e73-f38d16ce6388 CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff26983d-3edc-4537-a3cb-18d3b2ee9439 CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19c1cdba-cbdf-4da3-90b8-4dffd857ccfd CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a16d19-73de-4839-9423-f3d78cc39d9f CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 063f9cb9-81a2-4a5b-86ef-3464d3eefcac CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dde688-23a0-4d66-a2fa-22bbdc6c0026 CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 460e04f7-53bd-46e8-b453-5c070fc98802 CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01da55ff-1b44-4ff8-883b-b5dd2aefb610 CAID:CA400022111 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2eacf03f-c02e-4358-8caa-7d2cafd8e80e CAID:CA400022111 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45fbb2f-ad0c-420f-8f5b-9a2c8821742c CAID:CA400033092 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8394d075-2373-4256-864e-547e69a75236 CAID:CA400033092 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bb358d-11b0-4f9a-b07b-565cd024d78f CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60f3ecbb-9fdd-49e0-956f-411c16c90cf6 CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29a676c-520e-42f2-a315-a699ec32ad80 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc22cc3c-27d3-4569-b334-0961eead217d CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbe2b08-db91-4aa7-87c3-237148296c20 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40f1fccc-f63b-437a-828e-8a98b638f1da CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a69d4391-d29f-45d5-aae0-cd8ca7d2f3c4 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a16a25ee-e5d5-411a-b9d7-f8802b768135 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d5cb9e-5b50-4f4b-bf4c-37912efbb45b CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d860c89-901d-461e-9488-b5d33d401c4f CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00035ce2-dfc5-48b8-9b02-71621bed4f2a CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20201891-6a75-421d-8385-c9499c35e1c6 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a57bd40-58fb-4e99-8c93-70bc67909068 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eebacebf-5870-4058-be4b-4d73bbcaecb8 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a72d41f-1f0a-49fa-bdf8-2f5139559f8c CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a619be03-c6be-456a-8039-4605c55005ea CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8e940f-a717-4265-b78b-06ba34488d6a CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5880ae07-972f-4e7a-9728-62e7938a0c46 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b45bbfd-ee5c-403d-bd16-14ba3a4cc8e2 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ee3791f-2942-4773-9427-f1f01d03404e CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912dc2c9-95af-44b3-a79d-f054dbe597fd CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11347d43-3186-487e-9819-e18153060aee CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1603966b-9ebb-42be-a148-a66c55a9aa01 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1aa759b-c89f-4cc9-aa43-226aaa743926 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad53144-80a5-459d-9feb-97bdb56e58be CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbf1f2df-9c26-40e7-9c6b-fc21c24b4c56 CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a4c31e-102b-4e73-b8f9-1e40241fb5f0 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5935c787-67e2-447d-9c2f-bf6d9a0488e2 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f89b89d-3a87-461f-aed2-b699da014fb6 CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5836db6c-09da-470d-9027-3e44fbff5a37 CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5757da5-6ede-46d9-b312-93774af2b262 CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a110f2d6-e052-449f-bd52-f555700f372a CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee6daf6-6607-4454-9d53-1d57bab0cf10 CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f65246a-3e5a-4acd-ba57-a52672ee8232 CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b30b588-bac7-444d-8fa1-76e9c8af7adc CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a5200ce-b515-46d2-ae2a-0217c56c0e1e CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0289b7c8-8522-4efa-8dd2-aeb2ed92ec68 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c142d9e-fc95-42b7-8c80-68fdfb55d613 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65982f05-ebd4-4cb9-bbfc-689733bccfc9 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce7922b6-4712-41f4-88cd-0bf4471fc766 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383f9a25-77a5-4673-99c3-29344567ca23 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ff00954-8f55-44f4-8e3a-4fe557ff8e78 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ce018f-46d8-4419-b1a8-4b9e5049f7c0 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b0e2370-7df7-49e7-b964-0fd45feac7ea CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538b56d6-d336-4b83-a238-b2226c8a62d5 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eed47d73-10d7-4b13-90db-ba4c3cd69655 CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0c749b-fff0-4d87-a74d-8c930910799e CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bc9064a-fa11-4732-ba46-b1df6c30ab56 CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e12f5d-fe55-4ac8-8c1b-5219e7a98de1 CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af19a82d-9348-4660-903e-ff6be6ac2109 CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa661a0-2763-48c9-8343-dec3366bf26a CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f849e115-ddd2-4573-b03e-d15b91424937 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c5af7c-9bff-4d82-b137-90ab65aba190 CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63320f3b-430d-4fac-ad0c-004dec4d7686 CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac694a43-304f-42a2-b9cb-f133e57f9d23 CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 172cbf3b-3d9a-4adf-b73d-11333fd0ce73 CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9fafbc-9ceb-4ab7-be61-06e6b506e8cb CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6cbd5ba-d8e9-49c7-8889-e66a79d2c2ae CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdaff51d-ba77-4b26-a028-8743b3bcfcbe CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32e055ab-2d94-4c62-a64a-ecb218e9abe8 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6466603b-4d18-42af-bd7d-468f779ab1df CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fb6b94b-7ea9-4611-8ca8-693facdd9a00 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d5f2e8-94c6-4dec-b033-0b084c91d230 CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d5c0c38-c874-46e9-a110-776d26551c61 CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b15f241-0a87-43b4-bc23-c77210c077c2 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ce60738-bba9-481d-a1f2-a9b245cf37d7 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317d4889-b7c8-4875-aa9d-2793c51d0967 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdbedcbc-ec14-4db1-9aad-416824c8d2b1 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5306f357-3f1c-4e80-928c-effeb5c63880 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59e78fab-0e6d-4a40-91b0-b0b5c9c0df5d CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c3c344-a6d8-467d-88fa-4bdff93c1377 CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 935c1bfa-7543-4c21-a23b-9760ca9a923d CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7459fa6-7d58-485b-aef8-2b596bc26ad1 CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83496d6c-8a9e-4867-8fd0-de9aa74e1429 CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8808a6d-65a3-4c4c-9f7f-68e0bd475f02 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d62cb957-af25-474c-b282-7369d48db98f CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c75178-75b9-4991-b099-ace85965835b CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 940b906f-f4c3-4d89-b0d8-dd1d0a483bba CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7c3d44-569c-4a40-ad74-70cdc5278a12 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53e6a721-9a66-4728-97c6-d863ee07a184 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142d22e2-b99e-4a57-a444-ebc73a7c32c9 CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 891d9621-cd10-49ba-a4ea-c28735f372ba CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d14c8b-0057-47b1-9dcb-d1d272cb3493 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c7a8460-8faf-4e65-a5fd-da417417f34e CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dba6549-652b-4994-9cc8-201cd1c50d8f CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 392aacf5-982e-44eb-91de-0a7202fe69f7 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ca3eb6-23c8-4198-91bc-3802f01d2d6c CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 114a7844-27bb-41b7-bd1c-d0b047b8c8af CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2983f75f-e998-4b54-8458-efc25202aa99 CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7157fa0e-9c39-49dc-973a-dd8f4c1bc9c4 CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536bbaae-673a-488f-9a2b-d1cb64d8e0ad CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd27361e-37fd-4a96-a03c-c59971a9ac2c CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b553a40-8935-4b08-a67c-7956cde3a991 CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1efb6e08-83ed-4b59-8de9-e6a2e922ec3e CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25749d60-7014-4743-885f-3f7470d8ead5 CAID:CA1244072 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd7a2f08-224f-4a4d-9de5-4b7f018eee11 CAID:CA1244072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8540207-469f-44dd-b23e-1b22b1c744a1 CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18437688-b6c4-415f-b0ca-1e9d3ab077b1 CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85e0b68-e66b-495a-a7df-a7851f786697 CAID:CA343723639 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2465acf2-efe3-4747-97b2-bb7f3394e188 CAID:CA343723639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690e449f-f6bf-40ba-a1e5-b607088ce8f3 CAID:CA343723002 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7727de43-3e59-4faa-9a86-d709fca9722b CAID:CA343723002 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4a910c-01ef-4c67-8256-b86ac22b47dd CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24660756-e742-4a3b-8763-b8ce591867c9 CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d644aaf1-c4ec-429a-94fe-6d4376c9089a CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f6dd0be-9c56-4228-8086-95e14999058e CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b7f572-20c0-4831-8841-8638a9069760 CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 605ce6f9-f6e8-46f7-9b90-e9de8ec9c949 CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e4b025-013e-4e35-96bc-98646fe8e76a CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a473dec5-b29b-4e6a-a3d9-0549b9188cc4 CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45eb769-1f45-47a1-a7ef-2d01e20c1196 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed6909da-b672-4497-a05b-5af1b0fdbc32 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e559bb4-6a15-4161-a454-7697a70aefe2 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc1328ac-f744-4354-b677-897a77e72619 CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb28a40-d992-4950-a9fd-63c062e6e105 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79845de8-3cf6-4443-a812-7446ee5b1551 CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7befb92b-93e4-4589-9198-f4d3b57a2b5a CAID:CA399806497 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48f173a5-6a3e-4490-880c-e8a1bc5aa334 CAID:CA399806497 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c674a7e-f24a-488a-9abf-29bfdcf09e16 CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58a1ad35-bd75-4272-90f9-73f652632cf7 CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bea3f72-b692-4748-9065-26bc23b09248 CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c4722be-888b-4263-bca7-54b8e9144bb3 CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885edb47-1a44-44c6-97fa-38b462fd06ae CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a07ea40-fd70-4011-b9c9-5f4ada0fef95 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e658ef5a-d7c8-40a8-9c90-4fc20196622d CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba294773-bfa4-44bf-80c3-e0a13e8f561f CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb61678-3f86-4b5e-b417-c838238eeb51 CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1d4b805-2f4e-473d-a79a-c60bfcd0dece CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73c0458-adcc-4e3e-9030-6cdc31d71e6a CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d97b94ff-f1b1-44b3-ab1c-02a6cf784dd2 CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7af325-75f6-438f-a5a7-5e3e6b9aa0a2 CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8375c2f-c326-47d7-928c-0cd3fdf2809b CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707a9d59-f8e8-4d71-a42c-e43f3b7bd41e CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0eb7d9b-34ed-4508-b33b-b56d469ffc91 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e47989-673e-4534-be4c-18e1b31694fd CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f927d7c0-daaa-41bf-a138-f15a7717b922 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e6da33-ebed-4957-a281-4fa8013a6745 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d6c2d5f-f781-439a-b669-3ba83a67c988 CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded261db-efb0-4466-9352-c4f96634e559 CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cca1def-c8c6-4c60-be00-06771d12383a CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09cbd207-3e67-46bc-bb93-d87e9f9739f7 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a985db9-d810-43a9-9bad-722478855ed6 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014677df-16e5-4632-b90a-8cc83bfe7318 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64f3edd3-044e-4297-936c-6af6c5ae32f7 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbff6a57-469b-4ed2-a34f-cec7c8edabf6 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47075cab-dfa0-471e-96d7-669643485232 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184ff869-828c-4753-be43-5bc32edc0553 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 532cec69-287b-4fca-8b25-a5b4c792fe12 CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0955d665-b854-447d-9e8a-95f40ef49b3c CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 427ab7f5-412b-411a-9d20-02e06fd87ca4 CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e206fbe9-2481-44a3-80a8-5ab23ced92f7 CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e897a59-956e-417b-97a7-d8b44e17ddf0 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c6bdca-c0f1-4ed9-b4dd-7bac7c162449 CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2bbf319-a7eb-4afe-aa59-4897bf952ce6 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa85ab08-ffd7-43b6-88ca-7bb8e0b72bb8 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 257514f4-845f-4682-9c8a-298890c3bf49 CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee28c9a-a532-4522-a37e-97cd262d4367 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c83a8e6e-4bce-4e23-a175-09b1d939cbed CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80da322-eefa-4ad4-b0a0-7637c05873a7 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68628824-487c-4c9c-b439-c13b0977bf5d CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c1de0a-e1b1-4933-89bf-39f47c7a3a55 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b85029d-5249-4316-af8c-8ca537f6fc41 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe817a1-2a7d-49ac-9771-a4a4279f8235 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6444699-b596-4a43-b45a-ed35afef8748 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b593def1-efeb-4de6-a8f5-33294b931c40 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6656d62c-93e6-43ab-b8ff-70622c005777 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836642d4-9e2b-46b6-843f-1801299dc5a3 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41ad867b-7b94-42ae-b321-fc6df3512aa4 CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4334703b-777b-45bd-a648-6851077e7f00 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21cc73bd-119f-4932-a6a8-de3b239e6d2d CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44198f72-2e27-4be4-a692-cc075741f87a CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0e4ac73-53b0-4108-9254-88ac70fe3b01 CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3c5fe2-57a9-47f3-99f5-5b035c905f1e CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aea76ce3-9a36-434d-93b6-b374111bd8c8 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1ba362-e5bc-496a-a1aa-bf2be6401789 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d29adeb-82d1-404a-a3b5-667602d6de3c CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2222265f-7f2a-4287-9b83-b4960c6ed5b8 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98e494fb-11af-4b11-9aa2-0a1ed544bb2b CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b469c61-063b-4a45-a43f-116f70f1d621 CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07b35b5f-6416-4e08-824c-79627d78ab3a CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f371bd-7d8b-4ef7-9a19-a09d9df9beb5 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e6709b4-7040-49fb-b720-2cb7037485dd CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2011c5cc-9bdf-4ab1-85b1-0018eedf0802 CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 634e0179-8d28-4043-844e-3fcd2f125f41 CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb30adf-eea2-4a67-8457-156e979da987 CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3695b1a8-b187-41f2-8558-1a68dbdb5ce5 CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2189207b-ace7-4245-a89c-ec5371d8b0e0 CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 441af1f0-361b-4429-8360-3195a0a03bbd CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b53e645-d518-4fd6-ac00-d4250cb1150c CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a401633-cda7-4526-9c45-ad82151bfab4 CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ba8674-79f0-4f0b-ac23-2b0cfaa77b22 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3f5b002-a9f3-4a35-84b6-f989f52cc835 CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aefe410-6c61-40ff-9c2b-cc4c4ad2a4f0 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0705eb3-2e27-4490-b1b2-ae824378486f CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2c7a79-f4ae-4f39-90d0-6b6e5517ec5e CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c642d8a7-79ef-443d-9f0e-146d22aed3d6 CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c6e63e-026f-4efa-9604-859dfb48146a CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbbd2ded-d801-441e-b4e3-94412c4cbcb6 CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c70e2d-41a1-4e0a-97cf-8051ffba81ba CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94100f06-8f47-4802-9588-00e3a32d4f5d CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7dff4b1-2e37-48e9-89d3-50e16318aa74 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2810b175-1a29-4f10-8055-bcfc7e9bd024 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4c98e0-d4fe-4310-b939-db482e0303be CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa654d23-b4bd-4d9e-9c90-64ca55dbe772 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d47508-d31d-44da-a87b-41887c7f3ec8 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aeb3c4fa-03b9-46ff-80da-3652263210b1 CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5699d462-4b65-4c11-89e3-dab09823462a CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c24663a-a559-401c-8d2f-52145e1b5586 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03393e06-dc2d-4dd6-8b32-293d0a5605b4 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73d17e83-efa0-4bc4-97e5-b12b8d591635 CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b38e6a-c1f0-4ba1-84ea-c685d7acf561 CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18ac677f-bc49-4300-b979-cafc784b5f36 CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d346a17-758e-4800-a433-0d25e4aa5578 CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e268176-482c-436a-bf8f-c52128959f41 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2354ec16-bc14-4abe-8077-41fc27de2c35 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe96ed33-114e-44bb-aa6b-3c5e5ce6ec22 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 057d8496-1024-470c-98d6-98980cd37262 CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ef6ee19-8a18-4b16-ae5c-3752a09816bf CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53920649-cc14-49fb-a612-5b47a72613ea CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56d7f889-7ce4-4513-8fee-f30bdf76466d CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0243bfb-9915-413a-a9e0-85772380bf74 CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f6770bf-cf9d-4af0-94fe-f7f192dcf104 CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478ca110-2c71-487a-b133-37f60f259ce1 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c3a271f-5150-4cb9-88a9-a975f3b4c3b9 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6182e177-dedd-4515-a074-2e0615265468 CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0390fa50-d1a2-464f-b7c8-7a15d5767235 CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e504f6-3c9a-42d1-bffa-ae8ea9991d97 CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94aa7872-4311-422f-ad97-57c886a8a3c0 CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e426107-ff67-4a5b-80b5-2d0a77ee8441 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67649275-c538-4718-b721-ebcdb52d7b99 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac08f4c-4f84-4ffb-8473-4ab002549577 CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 922eef3e-fc1d-43d0-9df2-d712c13cc285 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf12155-c2f3-47ea-8db0-381df9e79f0c CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6488b98-d0f4-49b0-b72b-2d331f6ae9d4 CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5fe99df-6080-441f-aae5-9262db08508f CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b994773f-fcad-4b9f-8861-02f894174e7a CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b5d65e-71a0-4a67-b838-04a1d1f7b7a4 CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12d7b186-7c77-440f-a933-1cfd4b32af13 CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48cb689d-4994-4455-a18c-3f63eb76ccd5 CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0aed3248-d764-4d9e-aaa0-9097e6aafd88 CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91fe7d5c-da08-4fa1-8e21-fc46e17ab932 CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52ba196a-b5e3-4c71-9e71-3c90af2e18a9 CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662349c4-da28-4d4a-814f-927dd3622af8 CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98541c0b-f705-4960-a78e-7eab84cf27d5 CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e3fc6e-fc25-4747-a7b8-671c083f2150 CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9b63395-bfcb-4dd0-9e39-b1c312406fd5 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94059525-71ee-44d7-a961-442df2dbd4d8 CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4caafa6-f8ef-4722-9c08-9a27668ccd57 CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a2f070-c787-49eb-b40e-f3c672b0bd89 CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f1f9eb7-ce16-4bb0-8159-0148a58b42d6 CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2131bba7-4371-4e9b-81a3-49b6b9e3d753 CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d38fa7b-62d4-493b-b551-0af71dd4b12a CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fdb313-0ab8-4632-af1e-028bcc5e1057 CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 823a013f-4f50-4fae-90cc-c908057a9bd3 CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf325ce-5f03-45c6-9b6f-8378b0fc8f9e CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cd1c9ce-9f83-4afe-9c4f-dfdcacdf83e5 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c30185-4c90-4354-ab67-6399dc18270e CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ca952ec-cfa0-46d3-b084-fc1760b24793 CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca4c613-d7bc-48b4-951a-6b4da3396830 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f93729b4-63f5-435a-a54b-e884f95e4833 CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f845e12e-303a-441f-af65-95c20438921d CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d09d1171-e434-47da-b81a-4d5dd792fbab CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dec37c7-2622-4f96-9a7f-5ff8106aac24 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76d86c3c-0bba-43f4-acce-4d9cf2015c3d CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de46e6c7-3c99-49e3-b948-b2bf8e46d2ee CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80db2a47-aa65-4ba8-a3c0-2bef960d815a CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b83c1581-b428-4908-aaef-66cc0674466c CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf779531-c5bb-4a37-8032-186746b3bff0 CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e6f726-11bc-4d86-ae83-f88e15d21440 CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd08611c-9392-408e-aa67-e7aae9abe825 CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7a1106-4be2-4d94-987b-01ee2b13258d CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d653717-c5fb-4dba-8627-0dc6badf3ba2 CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca764e4-b952-43c3-b865-a7681b78e67e CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c8307bf-5aa3-4779-b779-dec1d2f452b0 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f364f627-0003-4a6a-ac87-13817c9a746b CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eeda8431-58ea-4248-af27-5392109bbcdc CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacb6566-12e4-40f2-a2c1-1a15641d2e89 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 031ce6e3-4398-479e-9a40-da42056cc14c CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a659b3-705f-495f-a38b-c6b6ba49352f CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa87ac18-c888-4649-ac7c-1eee23a99c37 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de79a31-f779-42c5-8f38-aaf323478b85 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fbbb812-10d3-486d-b64b-fc4e866bf4dc CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2973cd20-e309-4890-ab44-7ca4121c0996 CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7c2e3fb-ff46-4b11-b1a4-6086b45f002f CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88dda5c-97dd-48aa-a6fc-ed9d8baeb970 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9940b320-3e43-4e25-b19f-03a74f36e963 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c48679-7f28-4a9c-8389-c3980e24ea18 CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae5379c6-21c0-4ac5-8027-ca375d51c1a5 CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3523e5-6b07-48f8-be20-eaacde6f52f1 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27463507-5f5f-4427-9e47-b421bf981feb CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20180872-c01a-4b35-ae60-29e2b31aed05 CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d3c7be2-2575-4e3e-9769-43f35bf876d7 CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a4fb5d-1bdf-4045-a145-3f636b38a784 CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80443eb6-71ca-4d25-90e2-340711069a9e CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7125bb1-e398-473e-b677-a42f6719dc0f CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91706121-4f02-4b57-9e2b-63f42ffe2673 CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e024bd-b64c-4dc2-9b70-144d77c87a18 CAID:CA343724527 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3fafef4-387b-4964-94ba-3400babebeb7 CAID:CA343724527 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2369193b-fe51-4773-bf26-ccabc283a5c7 CAID:CA343724521 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b71a85ba-60f0-4f39-a5d6-393fe34dfa51 CAID:CA343724521 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1bb26d-a809-45f9-8faa-2870c3c345ea CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b68d3489-a6fb-4db8-b45d-0488f9130677 CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc0f8cd-3507-4a67-a6ee-29d3c57eded9 CLINVAR:2570619 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecce9912-891c-4d78-870d-1afb0c8e953e CLINVAR:2570619 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f487f8b7-5c2a-4340-b32c-812a9c4903c1 CAID:CA343723421 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88534188-f2e2-43f5-832b-cae79eb68909 CAID:CA343723421 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a760ae-8956-4111-a9eb-195056d7eb23 CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab61638a-77be-4aea-8f8d-c3146b50891b CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fedf27e7-0f7c-4aa6-991c-d44d5580c826 CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32bbf8ad-10ac-418c-a3e0-703638cb77d6 CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f003526e-7a16-4c03-bbfb-6b5838871640 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d36791e-a5f9-47aa-a69f-ce59c517b85c CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e2d206-1cf7-4e3b-8c19-a01a4b436b86 CLINVAR:625855 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c425fb61-5cf2-4fbf-a381-7df4e4cc3fe9 CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e0c3b7-c5dc-402d-a760-f218e2d8567e CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 354a7f8a-926d-452a-af8e-6bd19ab06e65 CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858b8efa-d1bd-41c7-8c24-7b67d3f02660 CAID:CA343724106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd72790f-5f8b-47f6-814a-a79fb0c59221 CAID:CA343724106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6865c28e-9d5d-465e-991c-f0059fd0087e CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28a9bf86-c2ae-4de8-9505-a84ee20d555f CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6844323-3a01-4fcc-bfe0-d175828a8574 CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a62feab1-e8fb-46b9-b9fd-43a5844810da CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e0260a-f2e2-4a47-8ff1-4256ebe75f06 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d3670d4-361e-479b-820f-f6260d52c406 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c212354c-9be3-4a06-8900-50f66a50769a CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7988a54f-93c1-481e-a71d-b7ad8d476096 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73452c94-4e5c-4c46-bf6d-94cb3b61ff10 CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b119f98f-66c6-4bb8-af8b-38c843c0d2aa CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6931ba9a-e159-4f63-b0cb-347fe369c546 CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab4293ca-689f-451d-9ae9-e3348bc6a08c CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb18a34-2ab4-4843-b00b-1153a6cd1a95 CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 258a40c6-2e42-41e6-974d-2bac37de692a CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec68510-88de-481e-a1cb-540a0ba88165 CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a14bc755-10b3-4950-99db-7b2fadc8514d CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa2babd-8145-4419-b451-e331e139c221 CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a58f885-298c-4a48-b361-e7fc731e22e7 CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7704a8-6f49-45b4-b2e5-c30107c2e95b CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9a57174-040f-450f-86b8-311c1ca41855 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eaa0c2f-6a7e-4d3e-a018-e872f41b664c CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ae6b97c-f697-47b1-95f0-d206620e0891 CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56bcb02-9c39-4312-a558-fe0713ded914 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 400e89ca-d4fe-42a6-b4bb-8b46ba8ebb8f CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1bfd7b-32dc-41e9-91d9-eab3a30e85fa CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b04265a-5ae5-460e-a01a-f993b0f77782 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865ea2c6-4b81-4952-9ffd-22ccab38547e CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2608e945-a561-4511-aa56-9cb4f5bf0d65 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b210c67-e35d-4e01-9b41-f86d79d3fcd1 CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f249380-7029-4c2d-a60e-ff3284e46012 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc691f7c-9647-4016-b440-84d02902d831 CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 055171c6-af7e-4c1e-87e1-ddc3d352e4ca CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c23efa1-7727-43f5-99b2-c1b771cac57e CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b7cfbac-f7e6-486a-9666-147d8eb9f455 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d2aa06-3390-46bb-93b6-c85e5f4b66f9 CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0c49aab-f480-4afb-b529-597c861a5983 CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60793e6a-37da-4b6f-9952-029a8246e428 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b41fec9-be12-491f-ba61-6ddf8aab47cc CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b6ebab-1411-46c4-85f9-6b988c3c1106 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21c49eee-8ca8-440e-a559-617fc17560ba CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 430eebf4-836b-417d-9291-57633a07ea48 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c9093a8-65ab-41c9-a5eb-0cdd6ae211b0 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8666284e-ec52-4aaf-a35e-477f7fa9c504 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 218c1104-6c01-42fc-95b7-c848fd19fa93 CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d541e8-d8e4-419d-b420-b0b393c24fd3 CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 552d3c2c-7794-4f0a-a71d-7f36e08811e3 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717095c2-329c-4c8e-b77f-cab8c6939959 CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a8629ec-4649-42f9-b5c2-1f5dfa5d88f5 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f02f224-09a8-4a64-9d9f-ddb02c93dc58 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 483079f5-8261-44a4-90e0-54486740d0d3 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca1dfaf-b4a0-4f2c-941c-4e49e167b0f7 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0512f936-284c-49c2-b485-5cacc011095d CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c925ec-a19b-4a3d-8f0b-ddb5f7b5545e CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c48ecf35-2172-47e1-b04c-ca6e4cff0c20 CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2243d370-e773-4fbb-8f98-7fa4c316709b CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bedd5a24-1f9f-470e-b3f2-9a4232808885 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb34ab2-a13c-4fbf-bd71-199dffaf46bc CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9284dcb4-3b01-4811-8671-af925ce9361f CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4503f1f6-6748-44f7-a520-57c6f4b313ad CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb15b8a1-319b-407c-9627-97a1757ec2ad CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51469b81-eeb3-40f6-a1e4-4964413794a2 CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34c655dc-fd50-4b55-84f0-cc07c446cad1 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498fcc28-250b-4c91-92f6-acb17a06b7d7 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e4a5d8e-eaa9-4c23-9881-9a5ea35c3e06 CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479e88ae-5e8a-4145-9fe0-1a331133840e CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bb178fe-321a-4954-8ffc-c5bdf34e5cdd CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf421e2-a11b-474c-8fa4-b8b3d4ded147 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1011f582-d27a-421a-a4d7-86b329b7280e CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6980c89e-d14f-4501-b583-8f07e82f1fe9 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc76a324-49d3-41a3-b9a1-c3544a2e084b CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bc3f4d-11cf-458b-90bc-e9e69447e69e CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13ee360d-df47-46b6-be8f-c432a8f79326 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b0e2a1-e5e3-42ca-9fab-fb35702bcecf CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e884fca-344a-45fd-b142-73bcf73a4f93 CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca17ef2-e63d-4676-b1d4-214abd5da74a CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3bbd6a6-fa48-454f-9bb0-d87a8d4cd667 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13688332-fbab-422f-89a0-5756af4aa83c CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f4400fb-ebd3-425e-b087-0b067243969b CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ca2370-331a-43c9-a701-d0df3d523384 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f856c3f1-1b09-4d61-97eb-6bf405698118 CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6512b40-b55b-4574-843d-db808ad12046 CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7418d66-1f6b-45ba-acbd-5e828b6f444f CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87aadc2d-c33c-4dac-a2a6-b5d5469c4cab CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b63e4127-fcf1-46bb-b92a-c6d185698446 CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dea86d8-338f-469a-9be9-bb4be460ff7c CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50c8c101-5aa4-471a-b0a8-a46268ff85bb CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cefdfa-569d-40fd-bdc8-2b2ab8d77dbb CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee0adca9-ec0b-40da-9ebb-c398e3cfba7c CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e855d93c-30c3-4d97-b12e-57f3b4e92170 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75fd6047-4d7b-40f0-8861-7f02d3099752 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defddccc-4238-4c25-9a69-a10fa7f30be0 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e6f44f5-e945-406f-9bb8-fa4696537322 CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4e2499-a039-4248-9600-bb1a0eb0a743 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a16ebc09-0f52-4d4f-9a7b-c72697a8c89d CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb45893-a624-4624-af82-cf79cb09f255 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a56b24a-288d-4e58-9c16-6bf5e2f701c5 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d34789-c75a-4451-97c0-8aca3adda399 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 936504a8-42f2-4e96-9138-31c02ee29761 CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94de438-0648-414f-8364-bf404d310d72 CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bd6f212-69f7-42d8-8549-72a688a9e06f CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d96da68-9bdc-45b5-8fd9-f3047530434d CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72ef1337-c8b1-4bd7-a338-d4e37a39470b CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b0aa0b-d246-40e5-b1a9-4b6356401f6d CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e1cdb00-38ff-434c-9e5a-cf6294233f42 CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d20dff4a-f9bc-4605-9aed-7e2816b518b9 CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af81b9af-bd4a-4406-8382-50398cf703a8 CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d263a47-83b9-4ed7-a26f-ae634ae7c160 CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59f8d496-b392-4cf4-937c-971b09223275 CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74dee1ba-fdca-4739-8f7d-b0b8605b6129 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a56b7479-cb02-4441-b67c-7bbf102ce0fa CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f417848-802b-4b75-a661-2d68faca3df2 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 750ffae0-cc3d-4931-a65e-a96c3caf13c3 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b251a07-9f74-4500-9a5c-414e272d0770 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 655a6bcb-2afd-4610-bd8b-1ba8a1b4848a CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c3e2b8-90e4-4ab9-971b-8b37ba22a772 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2dbec055-c98d-45a0-b180-bb0d3f2f49f2 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc4d14a-df03-402f-a50b-5531ac84c621 CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e44bd4ab-9346-43d8-b9b2-df391a24c1e7 CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfae01e3-014d-48e6-9886-fd975cdd80a1 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c41def4e-dfbf-429b-bd3c-62a62d0d32bb CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bf17a9-6572-401a-8e7e-05a21817db95 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf9fc0fd-f5cd-450d-9c8c-4863b2751bad CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e00753-7813-4000-b31d-62e7b77b21fb CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae70cf76-7b83-495a-89a9-b7ff2f779134 CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208f45a9-ce03-4745-af66-e6cc61c6942b CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df32fc33-54c4-4c95-ad39-fa51da94d686 CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a303047-3cc3-452f-ae24-9a028f85d610 CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f8be1f2-ebf9-4133-ae50-03d8c1a6f674 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30adc65b-2f66-4828-9c65-818b15736cc6 CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbc00771-da49-4228-a753-fa687f50681a CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc01594-6935-4de0-a1a9-b56e47eb0837 CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5b4ac87-7285-448f-a715-c27dc7a83610 CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41a78f7-8b91-49bf-bbc6-4411e1d40531 CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 405132ec-32ca-4850-b723-5501d0a26d7b CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f2c4ff-c64a-416f-9754-19232f468d2c CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 222ac77e-3b48-4360-b82e-3ab78e5866c2 CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f6cb30-8734-400d-a8c9-995c88423c5a CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f983cb9f-7606-4859-847e-0f69165675e0 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f9eab8-6590-4600-9e9f-6dfafaebe951 CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1077477-c881-44a7-a0d3-984608753948 CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061306f2-d9ca-4d18-b51d-069cd3f5ca0a CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccd3c197-1d68-402e-8ac6-d2193694ab13 CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdabf9c9-4f23-4f74-96dc-c312754f59c4 CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa03cda7-4878-49ea-a359-ad315101934a CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3b0313-f0de-4e10-8d40-590921367504 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29e8589e-a07b-4368-a845-9621e5bb8978 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a742bbb-d311-4681-94da-daa00d5dc78a CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e54670af-9bb1-4e91-821d-7709658cdb09 CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273dd4f2-e5b8-491e-8dae-b5b8fcc3b327 CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41e6353d-680f-4724-905d-f5a62cfcda58 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f04d1ca-7006-4749-b93d-008be152a7bd CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86f7c84a-44bc-4406-8a5b-50cd56fb72d1 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d5edc1-ec17-4473-94d7-c6e505341e96 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81c2d92d-6e91-4897-a2ec-b50910dbd9e9 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ef0687-96e9-450a-826e-e9ef11f807a2 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 916d047a-cddb-4e62-b7b6-639c7856fa09 CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1521aa-90e4-473f-96b4-32b14e232376 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41cef6e1-50dd-4fb3-88df-e85acdf9206e CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1c4101-c047-4441-ad39-4f3bbac0d11f CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 557959f5-b115-4583-b678-8a9e56e62a62 CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817c73a1-6d16-4bca-b0e5-e3dfd6cabc81 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b484e119-e27b-426f-a2cb-7dcc44679892 CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3089997c-835d-479f-b81c-1daba805b242 CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bd9a8fe-ae25-44cf-ba37-fc9dd024bf55 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981c6625-1eeb-402e-8c8b-6b26e0318854 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a86c784-4136-486a-88e4-6ddfde328967 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6c4a0f-62c2-461f-a248-0470996ca2ca CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 447eeaeb-1bd3-4c6a-badb-1cd11f996dda CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99d2c3c-a172-42ec-8b85-2c7573cf7280 CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e221a6-6882-4f45-8ba1-34c18183295f CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799940f3-a783-43aa-87c7-7753af40dc4c CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ddc6e2e-9176-40f1-b9ee-ea19ae927ad2 CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c53e599-2b65-47ca-a94e-9327766a08a2 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c4fe82-fc3b-4bf9-88e4-b47d3065a49f CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e75fd6-bd05-46fb-a23e-41d590bbbc64 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f001b19-09a9-4589-9d20-7b00c45794af CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb52a32-83c6-4c65-9c07-2e11adb5fbf9 CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46e4c30d-eb38-454c-a6f7-d649b5d7cbf0 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cbb483-68ea-49f6-99ea-62ca9cb38329 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f5f4ec6-867d-4c0b-b7a9-b45ba0e904cc CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7d5be9-5288-468b-a3a3-5c5e74988122 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cffac779-9978-42ab-80e1-4a5a19630308 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e44559-e6d5-4cab-93a9-679a72e5641a CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43f79fe2-d807-4001-818b-137ad7699a26 CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b740f8-a193-4008-a15a-0c0149b058d1 CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5f67226-5c88-4abc-a905-4dcb910d799b CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa2e41d-adbe-4cb7-a896-89798caeda45 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen acd4c2a3-ac70-478b-824c-a464148bef7a CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29ef0ba-2bbd-4a8d-b909-ec7602b7260d CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 841e3981-f2bc-4aa7-ab11-1ce0e2b2762c CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345bba9e-24e0-46e5-8431-bfe0625e4cc8 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88b66e23-2a0d-4702-8704-9d0ed64168ce CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0dd3b37-740f-4409-80fe-d20ca0e14f95 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 504f345e-4d61-4a68-a208-e0fdae330d10 CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedcc4b2-2099-4de9-a48a-d6d1454c1c91 CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbfdd3a0-2482-4aa1-8753-34dbad008a9c CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b989889-0962-4025-ad3b-2c7cb570cdd6 CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae54c3a2-d6f3-4a28-b3a0-b1eae35e1835 CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9770f30b-5825-4f11-a0b7-91abba785b2d CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e396a33-1955-4b2d-9443-07b5814553b4 CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be9adf9-d7be-4fb0-a611-99d094a90d35 CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f459eb0b-d936-4b4e-aa27-ba50a5dfccad CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c15459-90d2-458b-97c6-00cd66e14b9e CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 197f6924-444b-4ddc-b6c8-1236f3501196 CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ac2a64-0fbd-4871-b51d-7cd6357c3b21 CLINVAR:875033 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59a027b5-0d3a-4f42-9b2e-f180faa11ab4 CLINVAR:875033 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93060583-70f1-4f75-82a8-711dff718f7a CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b0f641a-17af-4088-9b45-d248f13c2673 CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975783d3-551f-4d36-88ed-dbadb78b2b41 CAID:CA343723562 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1c46ba0-66a8-43c0-aad7-7627ea3e82ca CAID:CA343723562 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954e7999-6729-4b3f-8f17-b2c5822213d9 CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d66fe642-5ee7-4e54-8701-d7d06a004b43 CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d3b0d9-c8c9-4738-9685-d6b54b6b5a01 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 213ac73c-48a7-44a9-856b-f108a73be010 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06117e79-fe46-468a-a0ec-d3cd84dbdf60 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8229db02-6a3d-4f12-8c9c-c42c2c3c90dc CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd978a83-3b5d-40fd-b839-ce3a28f51852 CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec47a999-7cda-4898-9b9d-d72f392c15c8 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9eb090-fc55-4170-a569-2a39f9fc31cb CLINVAR:875954 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a704c89c-d68a-4501-94d8-0434f29a0708 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a1b4ca-e59f-4f79-af8b-f6fe37823a52 CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52064bbb-e767-4f10-a142-382bf31254ca CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acdbfee-7681-4f95-95fa-8af2af0e61ff CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 628b60f9-5941-4783-b8e1-f6cf22043ebc CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd23123-fa06-400f-bfe3-f3ea6905081c CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d64a1bf-6f30-4ab4-a4f4-ddc36b86e985 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e12b039-43e2-49f2-a3f0-3c343574b868 CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0b87534-6272-4a15-b003-9c141811fea8 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea143b8c-500f-4a94-95e0-dfd26a7ddc33 CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9573cc5-20c3-46ca-bf2f-b5f160738e79 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b056bf91-d106-4bab-8cc0-25fa5e51a4f8 CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8d5d5a2-a5b4-42b7-8d16-cd784cddb532 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15645afd-3fab-41b7-a25e-b1f828450668 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7568a683-f112-4b10-b3c6-2723cfc446ab CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79da6426-4b61-466e-a401-14a5fd408acf CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a547fad8-fa5f-4e91-b900-4df992b92963 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc9c266-5a95-44aa-811c-78afff246803 CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d557f49-2ca2-412c-b611-c8585cfdabe1 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1177453-b27e-4cd2-b3eb-a502a73c5015 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ebc3321-9782-42eb-8f84-421948da8df9 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8c4e56-4968-49f7-97c0-11e5bc4bc258 CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9e7fc22-1752-4108-bcfc-b8f4cfa91eac CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1247517-61ef-4e92-a5c8-32e16752ac5c CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 563416fb-d731-4be7-89b9-0d8df659b452 CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84888fa0-48d3-4954-8a20-0112c3578aec CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43175e36-2ef3-4b6e-a10a-9bfbe5da4a5f CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d524be-6150-488b-ab70-5dee7469f307 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6e5dc2e-b583-4a49-b36b-1e90c2b77904 CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d432a4-1c1d-454b-afad-f94322d36843 CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4ee71b0-cec3-4fe7-b3e1-486383bb1b29 CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8615245a-82f2-4a56-9290-5092b2e3d6e9 CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d40de7c2-fca9-4343-8166-20407f611a81 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0323b9-87d8-4445-b388-16e754a85efd CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1807e457-36d8-48c8-a62a-415ed81e18e7 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6352df-bdd1-447d-b50d-66b31902ed4c CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b02c0b8-06c3-496f-9903-5e049c02db88 CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53525c2d-a669-4d6d-99f7-bf81dbb55a5c CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1221a3de-1510-4d7b-b75b-bc6cb8258d83 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f1bead-9ca7-469e-8540-c719b1e9a990 CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2deac0ec-4cfa-443f-958c-a011cf9a70e7 CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ba08bf-9e31-4be0-8191-896a44b90bdf CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37f27f91-abd1-48ff-b047-26dc54cf4e38 CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb01b01-d015-4749-ba89-75f46d46a031 CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b289b59-9600-4647-ad6e-e417baba598f CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4283129b-6472-4842-a086-e6b0a69a15d5 CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cec9ef11-d283-4c05-ae90-110b3ab0ead1 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9730ea44-c9d1-4c94-b5d7-ee6cfc4d3c10 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5abd8a4-ea4a-4661-9bb0-9709a7acffd6 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0707bbe-039e-42b8-8ec6-64c52f024fdc CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a475003-dac6-433b-985c-1fccffd28db4 CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18749b98-fb33-4c66-9bfd-2c54ce4c2cd6 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d2b51e6-90f5-4629-90ab-bcf770fbcca4 CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42328f5-077d-4cb3-a28b-9cad5150336d CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4f7a876-65e2-4a57-8606-ff69964f32e1 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1700c4dc-d9f8-434a-a8e9-994ec920288e CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e3afe56-1d83-42ba-902d-1351e8a5946d CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc752a7e-8735-4b23-b4c8-6354f3a3d415 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98fa0022-c4f3-4314-b13b-492d8074f380 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c66c529-db25-4392-98d6-b81b59ef37f7 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26b8e3fd-825a-4bf0-a5b3-c07129c7bf7f CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9881b3c-e18c-4c08-95dc-ec5d7c9b9b0f CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 848fed9c-ab5e-4810-9d8c-39d22a7d9849 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be3f2be-5ba4-432c-9fab-7959a3659b8a CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5f0b1cb-dcab-4c49-ba0a-c9e60c1c23e8 CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb87410-6b69-485a-819a-7a6320f737f3 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f6ee103-6db4-4ff2-a8e2-8bb3342b553d CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2fdef33-50b5-40c3-8cb0-d9d08eb43c5f CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f15ba84-8f56-4e33-b7d9-337bf8da9a83 CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f7dab6-bcb7-4482-9960-01a8a2903d8b CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d641bc4-048b-453e-be2a-5f8e9ee9b881 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b702f7b-8b32-49b3-b503-0468590724ee CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75ccd614-1e54-434e-9df2-ae73695e0573 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01cd6ea-78a3-4dd8-9f72-6197c45a69ec CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f33e7b8c-36bd-472f-a1ed-d221fe30a104 CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd4cd7b-c045-4b15-860a-fa7b9aa8847a CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c43d19fa-2e38-4eaf-96be-72779d117bf2 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1db85c-5276-4d0d-ac52-28d814297f53 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f0104c3-0112-4051-94ad-86214dbe7c56 CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39102dd2-fd28-40c9-be1f-bc22d07213f8 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ef86616-1118-4f03-8a7e-bd0583432337 CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c862caae-c201-4423-8122-2453b1a0426e CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b55f154-3048-4005-8e5d-87ff91c848f1 CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89dd37a-788c-4396-8ab6-8c91e596a774 CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c2d1a82-1178-4fd7-894e-f9121caf3d8c CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9957e7-34c9-48d8-af63-733190b03755 CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95818feb-9d1d-47a1-b409-0b7647363f2d CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b486b9-50ef-4375-9b91-80227c5ca2b5 CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a9c189b-e40b-44f5-858a-13df76599deb CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c559235-144c-4a3e-bd78-7d02fe2f6a37 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a184def-f69f-449a-8fb8-4e594e9a6655 CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498ca7a4-1c7f-44c1-af7a-85e24c20b90a CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b7b535b-b00a-4aef-ba27-7490342c17d6 CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cffe1f2-e8eb-4288-bfad-78abb85ff69d CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6c824e9-827c-42dc-8454-7df1d7c9ef9e CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58aa9687-b98f-4c7e-8f77-e67c5b3bc0c7 CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a8861ed-803c-4a2b-bf6c-1bc241c39197 CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95515f08-e043-480f-b420-71a9526af734 CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd8b83fa-1766-4102-a7ab-300f82c8cc7b CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee924f9e-9505-4d76-a962-a465f7a7a0e6 CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91bc4016-79da-4cea-a19a-183e3f606987 CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfecba6-b97f-4565-b2a5-34b0b8e31bf4 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bcb6396-718e-4f71-95f9-82c8fe293340 CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc626cc-de66-4aa0-8200-6c51db30f03a CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb0446ba-68f7-4184-8785-61acf89b72f6 CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32001e50-c5af-442d-bfb9-1fc44e3a639a CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b82f0ebc-bd9e-4152-a79c-7a48b4f0670c CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec04eb26-1277-4ae6-9b0b-a2f0220a2651 CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da8eb7f-625f-4d92-a173-1612fd45b562 CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2386706-7c82-41fb-b72b-9b7bfff65f03 CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc5d80c-3bdc-415b-8292-6c0bc6f55b21 CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8b651c4-9b05-47a8-a768-c949ea4a3b0e CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae696d5-ffed-454b-acaa-88f4fe63fd87 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8077253a-5454-401c-a8b2-ac314bb4c18f CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c50de6f-534b-47a6-8aa0-fff765de58fa CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7af83e5d-2ae0-4f6b-b439-420b9f9bea1e CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051e9541-82dc-4e47-a37e-4705f78daf59 CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24cac692-d524-4de2-adfe-1304838095bb CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061068a4-3efe-4c4a-b647-6767954d8dcd CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bd9f32c-1b65-4202-8df5-78fb34375dd5 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a44b1c-087f-4834-9e82-3728ca357bdf CAID:CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf602bb5-d37c-48a4-9142-bdb50ec12389 CAID:CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2951ca2c-f58c-4ecc-a440-e837a232c21d CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a6fa4a5-97be-4b7b-8a62-9a1b7ce04666 CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f583fd5-0a29-4001-9c72-f67d8e9a92d9 CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a52e993-9536-4ebc-ab29-9e1592c204ef CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8230d994-083e-4cdf-a077-df81ddf0de6e CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5dc4401-f045-4299-87c7-cc9750ee6f88 CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9ee663-fd2d-4755-8706-819bea907102 CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8c25aa1-590a-4660-aa97-4ef3207fbe72 CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e429bb8d-272e-44d0-bb6b-9696ead1a2d7 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 824eb615-c60a-444f-a7b4-8c5196259b0c CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70b82a2-7949-41be-a89c-8c317c1a411f CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab863995-8b94-44ad-9756-b17e66ea0a54 CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d993c58-981f-4107-b16e-b99e3d7d0fe1 CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dd83028-c208-4d45-9d33-6176efc50cdf CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1134189c-5e97-435e-8c44-d6609c8ca3ab CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b999d42-9f89-4da9-b6d6-4a57ae5b8052 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2eb432-17b2-4de0-95a0-cc1fd69f06c3 CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a94b267-2559-48d0-a38b-b762ff401801 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e654ceb-30c2-4e4b-a1b8-a17cffb157e5 CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67682f01-a0d9-40b9-9181-cdfabcd5eb6f CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ec353b-2a82-480a-a07b-d8fd004e2bc1 CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f9d3814-1b6c-4a81-ae54-03b0ced46c95 CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15a1557-d3dc-43e3-8961-bac3d372eacf CAID:CA915940789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3eba2af3-c9e4-4aa3-8393-2fbd798d4150 CAID:CA915940789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd2f1bb-9c1e-4329-b4db-20698e8be0bb CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29488eff-3ad0-4264-ad55-06dd49a550a7 CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f591848f-d555-4413-9e79-c5d3abd3a181 CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acd49834-d285-42b6-a47f-c9c45d691a42 CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65fb6123-fca9-4e7a-a3ca-617b7efb1aaa CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20c2dd6b-154e-4b22-8be0-2d1945fa09be CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a683f0-e7ba-4f92-99c6-d3e984455ce7 CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f1022d3-15c5-42be-9db9-ce3ec4894039 CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba229f5-c238-4ed0-9375-c4e1edbb0655 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8723ed8e-6679-4b0d-be89-a5016b3cee79 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf11b672-1721-4875-856e-a6ac29a1666b CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 227b3814-2a5d-42b5-b504-a722e90531d8 CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6addb83-faf5-41ab-8e34-a223048b38c5 CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3515909-76af-49ef-8c60-37112de9bf70 CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d287ec-9ca7-47aa-86fb-e5f5615c8f3c CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e879b15-a4c0-4165-b3fc-f0b6b07747cb CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a21709-784b-4bab-a127-923ff53b8c53 CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c990c912-df66-4f6c-80cf-7b63ef8247b8 CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd3d7e9-fc06-4d8d-ad74-2cf5d438cff2 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b258dc61-9f7d-4131-ba22-bfb96769932d CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8fe1b9-7806-4253-bf53-2ea97c6b1012 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a2ccf83-82b9-4808-b7ec-0aee047db3da CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57295dfa-9b61-4c6a-9353-1aff1668e532 CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90913645-4a8e-4cc1-b538-e8c1dfb62fab CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc53c4f-8475-4439-8160-5516f4380f4b CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d93edf7c-feeb-45ca-a600-ee4a9dd53fe3 CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a2c705-9ecf-4677-bdfe-b2e6a265c702 CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 583c4d3d-1486-47f2-bc04-ec905a338bcc CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d3d511-a647-4853-8d9f-3163b9a8663e CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 104e27c4-64b6-4e00-bd3b-1b92614f6dbb CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120c78cb-84b2-44a5-bf06-fde9ca54b8bc CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96d01465-3e9e-44c2-9e8e-4e1f864f44b5 CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b6f38b-cd7e-4784-bf58-9147de8d4e6b CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 820ef3c0-ce10-4ad3-94b6-a31c6263226a CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3f8601-aefb-4356-9d1f-e68a0bb3601f CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 281573a5-2336-4eba-8f89-938dc525cfe4 CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7394d4d-34f9-41c6-8775-bb40c0ebc9bc CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 265c67b5-bd65-4c2a-93e2-e4894d1d9c55 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fcda18-0ebc-4e9d-b4dc-b5299066439f CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd2066cc-03c0-49c8-afaa-6839946493c9 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c66532a-5dba-4b20-944d-4f0d3b33387b CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82ed56a6-f2a4-4e3e-9425-733900a37da7 CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0501a01-8517-467f-8161-e3f964fcdb64 CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e739686-b567-46ca-b8e2-357114912c1e CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9caa24e7-ac54-4092-be78-002c01dd681d CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d0a4619-e1e3-48b0-a4bf-e4b82635f353 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cc4275-1f17-497b-92b0-629e6e6cc9e2 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ada2de38-bb6d-4feb-93d8-ee87d4014185 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409006a0-ab92-4001-b1dc-1bdaab25824a CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9b1b954-ec7f-446c-9f45-5f74f3fa6e7c CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bdc3aa-f760-415a-8d82-c966036f7cbd CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcfaa4c0-68b0-45b1-8cab-b15b2c0223c4 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde8e67d-73ec-401b-b146-8dcd31a06481 CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b88513d2-0663-4a36-8cca-95eda43819b5 CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27893884-6c3d-432e-9aef-4ebc100b7a3a CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96c9b714-e129-41d1-b1ed-9e06fe6168a9 CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881c9aa3-4dae-4c47-887d-937986a38461 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ef9d130-f887-4f0a-99f8-40fca991e2e0 CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05599022-a4bc-4160-8c6e-47bcd654c4a4 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c91b784-9d87-4e9d-9ae6-557cb0bd336d CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c34205f-3c5e-4328-9a7e-b874378fd386 CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cde088f-fbca-4e01-825c-c7aac144902f CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0522d31-fc6c-40f7-8162-e0d0646cddf3 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa793a0e-db4f-44d1-ba50-7fad9ada8757 CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22db68d0-362b-4d58-bd01-d518bae657f3 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5de44ea-99fc-4a8b-b623-a276c24cc5a8 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe982c1f-970c-4c29-ac55-302a84a0e3b3 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f0d3677-8b00-424a-9085-d69dc6981643 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398a6a9f-1087-4381-b872-77fb275b3c8e CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ccb453c-8248-4d75-b46f-69e66a7f72f9 CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76bda549-ca35-4262-a52d-ce498b6a129c CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ae88ea2-c794-4a92-a98a-46f2cb1241ab CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91be36c8-a34f-4231-b1d3-1ce04a787889 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fd0fd8d-8d49-4fb8-8733-217606eae4cd CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9b39c4-11a3-4ecf-869a-cde408f0d4e0 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c13e981e-8e0d-4acf-b18e-011764397ac2 CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97582c93-8f32-47f1-b8e5-5e5c462bf5e6 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df212818-0d41-40a7-ba4c-6d68378b74e0 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c5ae85-1f51-4fd4-ae3d-985e2d932f06 CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 551e60be-4f9e-4da3-a094-6e2d766665b0 CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd540942-6d4b-4e07-b081-0c0dd205b2f5 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a692e664-17fe-47c9-b631-85080702a51a CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc37694-1c2b-4ebe-8af5-e21e9c53875c CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e78cf2b-182c-43e4-b5b9-e6e8e9d4ac2b CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0a4628-f2af-4ab8-8f59-0b9ef0e738d9 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 971b9128-b95c-413a-816b-aad249698331 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d92322-b867-4afe-969f-73a88543af18 CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddf8cf95-b8fb-4d9b-84f6-cd6329a30b50 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6235a5a3-7c25-4e3d-a49f-cc7a34125ec0 CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba4036b5-80fa-4695-80d3-8c92238a413e CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3af0a3-3994-41ee-aa07-b69cc83c5dbb CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3c8f594-16f6-4df8-8cfc-3856411cf494 CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89dcb6f-894e-45db-97dc-ef3d4a0494d3 CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c9a0494-3498-495a-a6fd-38e437eca3b2 CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b78f034-2774-40f8-aef7-7ec3950e014a CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0a019dd-26f1-4575-a38b-1828845c2639 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591bcc81-2fd2-45fb-b3fc-3db3293b8b82 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2820b498-6e42-4332-91d2-84ad08503b88 CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13fe986-df9b-462f-8e1a-68893e149da6 CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18d7100d-2a0c-45a9-b9e4-b57d610c5184 CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb236b4-bc02-4459-906b-a4dcccbc1595 CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 326250d0-2093-4eba-869d-7cbb29add004 CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fd3b19-5397-4d9f-89ce-1909ef9d0b56 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de272443-27aa-45c7-b6d5-744d3dcd0cc0 CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a7b193-e539-4646-9168-f5e123de9ee1 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9f423e0-b0eb-4163-a373-db07e20574d8 CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2d79f8-98fd-4a7f-b8ae-a32c8be00dfe CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36515da6-56a1-4a9a-b387-a1faa91903a2 CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e9bd72-d6f1-4da5-95af-d96f7d97e630 CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3ec4301-55c1-4281-8b02-7c0bb556a0fd CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895dbabb-30ba-4879-b6a5-870c70336fe5 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bb649ea-cd2a-4795-bdea-e17b60e5b25f CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c00e09d-b8d8-48e5-bb1b-208ef4ddb3d2 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 450cf96c-ad4e-49a1-b04d-5c121c8b227f CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f37e544-0fb8-4182-badb-121c04336f51 CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ec2548c-3aef-43ad-884c-c088914ca8ab CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06699296-5659-472f-80dd-0c823c46fd1d CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 260ef7d0-1f3d-4fa5-8416-21129cd675aa CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d28106-9b06-47c1-ab14-9a6107b31242 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa401cd7-1914-4d6b-81f1-fbab61411b8f CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5955c8-dbb0-4746-8c6d-9509ea0e1ea6 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcb0a9ea-8171-4ed0-a91e-bdda52e3e259 CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24858bc3-86ae-4401-9772-3d33f9ebe116 CLINVAR:431973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d46e4cf4-2330-4cc1-a68b-8bd9fca2ca5a CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea95e16e-5efb-4036-84fd-a68933ae5561 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc22b7de-8fa1-4694-b7b1-3607285d9202 CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b103601-0602-4bd2-b60a-144cb371a01e CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa87df4b-2b69-4f91-b55a-02323b183eae CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3527f65-2a23-40ff-89ea-c38e852703bc CLINVAR:55607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30573afd-c731-43bc-a035-c721a5f93bd0 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba90560-5d51-42cd-84d9-8e46be10976b CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98e3d821-3c27-4946-8d8b-f70dde0055a3 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373ba742-5c69-492c-af8c-1ea84dea160b CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99454d25-3aac-4c5e-8328-ae11bdb5d8a5 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591244e4-98fc-4089-8756-39d686b93fa9 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48493fd5-6dba-43dd-95b6-c04877f8cea6 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284ba67d-a7ae-4791-acae-48538b8d962d CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42f01a2b-9380-4e73-b6dc-4877a6101fe9 CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c715961-d828-407d-b4cf-0d9e7579138a CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c230dab0-033b-4598-82f6-d2512812b6c1 CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b48b11-a77a-403c-970e-b3129fe18ca1 CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9e53651-5525-4c0c-96a1-cd07daefc463 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb81075-b16c-4dd0-8387-ee4953ac9cfa CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45e51003-bc17-4047-863e-41d8bc6d9f9f CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1541f3d-7960-4dad-ad28-355c4304e4c6 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81890c5b-9010-4878-b777-d6647165786a CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ff955c-207f-4f71-97a6-1ea8046f1bca CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19f71b5e-c112-4a64-9712-83081237d53e CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554e1a39-0f49-4d5a-85a1-a12f6f9f84f3 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcc664af-1a61-43c9-992b-19db2c0ae249 CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 544e2ef4-2003-4222-85f5-2af70e23d9da CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c09651d1-1977-4f07-b101-beb33b3b6c8b CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e54d37-0f10-4860-a449-e4b81721342c CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0534f8fd-dc36-48f0-8af8-150741dc2c0d CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3685e8f-8aaa-4437-8e82-45e1a46fbf71 CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59d59ce4-b95f-4c83-92ff-8ff40c68649d CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25b7c7d-3f29-41c6-8a1c-f39834e0e75e CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dda9eb9a-628e-4566-be33-cffa325a3d3a CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be67d86b-c6c9-4544-bfdb-95e1cef5312b CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97591cf5-658f-44c3-af9c-f17977e733a2 CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa311847-02b0-4508-b43f-a368e247a10c CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e6971dc-4b2a-4a1a-988e-d1d6a30534d9 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d3418f-7a5a-4258-ab8e-b2f9737d8e14 CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d3f70d2-914e-418b-9c51-b8961a1f8c7e CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ae60cb-2054-46b1-abd4-c7d54c897ead CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e57a1bf0-7a3b-4a8d-ad7e-c277a646b479 CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd24680-75c4-40d1-a461-81694cc2ca80 CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eb1dbd1-c435-45e7-b29e-710292df7168 CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37e8ef7-41c2-41e0-88b8-f71f43d8fef3 CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84c70225-07ef-479d-b3a5-1a93f526af0a CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588a190f-aaa2-4538-bac5-48262b11af71 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4ab8044-e85f-4fd1-9c57-7e3feec3731b CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e320eb68-6a5f-417f-a8f2-fb806458b774 CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0a89f1e-52e0-421b-ac29-a9faaf812da7 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1019db6-4884-44d5-a1b6-e3f0b9afa807 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6f150bf-4a8a-4e32-abc5-d20798a6fb07 CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe85ead-e9ed-4e28-a0b3-c6b7ec979a2d CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98bd629e-6b7f-45b8-bd4b-86ec677fc332 CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d002b04-b1b4-41f0-beca-887e7c129f01 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5f1421b-ec56-4a0d-871b-2fb6a9210335 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c971d0b-1b62-4eb7-89a5-889e49217a07 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a43348f-1e13-423d-ab5d-aa342d997255 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed9f223-aa6d-4c2c-a25c-a039cc9dbd78 CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4270312d-7cb6-49e5-88fe-d6c99df3c82c CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8098c5bd-412b-4000-abad-2250230ce2c0 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f991e233-b044-4b23-8ede-cbfd18de586a CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a3dde6-f8b2-497c-bfe5-82eeab271ce5 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66c71e92-c534-41d3-8a81-7e309aa4ce13 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56d2cd2-850a-4317-ab4f-c1dd53739a2d CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63aff549-4a04-4352-b1f7-09bdd64276c7 CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8877a3c-8e5a-4cb7-a6b7-e38ed49e4c42 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18086e8c-39cb-4b74-b897-003f5adab9e9 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84430d52-ba38-48de-a5bd-fdc3efa1114b CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4a66b73-4b34-4785-a0b5-59d7346f4d4d CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab662687-de22-4844-9c3b-91ee84202aab CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65e2b778-8eb3-42fe-894e-a2017ade8621 CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b282c93d-729c-4405-915c-77e8ee46651c CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2e76a5c-e2e7-4e77-9596-85b07bb81b9b CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66ecbb3-484d-4375-a0ec-5c9e9cdd51f5 CAID:CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f809b35-acfb-41e3-8266-eda059866692 CAID:CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ed06ca-b54d-4924-9e4c-235c9f050dc4 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ae7d608-c2e8-4855-b9ef-1e36f20c1043 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56794de0-6860-47cb-a1f7-4f98a856856b CAID:CA500273575 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddbc8318-cf81-4624-a86e-0d76f4ec1bd8 CAID:CA500273575 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd71bc21-23bd-4821-a205-446951e2afd5 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ed295bc-62f2-4681-a72b-a548c8900034 CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02cb353c-b34c-48c6-b349-29060c8c5437 CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d7b19ba-9d54-47d8-baf7-5d775a0e8038 CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e469a1b4-8f62-4a3b-841a-fe8763d88eac CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 596d29f5-1da9-4f02-9f94-8aab467a65ff CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575e4ec7-27b2-4ba0-a969-b1b3b62d8daa CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16259e2f-f5fb-47b2-9506-a021f9a692ea CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2801a339-f085-40c7-be3c-65fedd44ae93 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3bc8311-f9ff-42df-ae1f-83e6ec86baaa CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca24cde-b388-47d8-a44c-95e520c8c79a CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06535e84-f3b5-45f9-af51-83667679ae72 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbd883f-ace7-4f1f-90ff-3fde787bb988 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbb7b3fe-b53e-4aaf-afb4-26943b33f05a CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6bda17c-327e-47b9-b59c-72df3c825042 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a26cef7-f160-4e51-8c8e-fde66d32953e CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b610f884-f3f1-489f-a430-5d7f7224d28c CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fe27278-bf8d-4c0a-b458-f8ea59162d01 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5fcf8f-f1f0-4694-a2ea-d6173ae0a372 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85bca053-9c59-41d1-9806-ea3984bb0991 CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0197190f-1b08-4f60-bf23-bf3d306e010b CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f686a0bd-75ca-4f68-8acd-919232d9d844 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c952220e-1ffa-4187-8748-6e68316baffc CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 715aad73-4bd2-4ac2-91ed-5b8e4f414401 CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2740e0b3-b50d-47b4-ac91-f71ad62335c6 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d8b83f3-816d-449c-9891-69aebf3de26d CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81e1ed1-3eea-4a9b-b3d8-c30d14668715 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5998b079-f5f5-42c8-8e40-ee9a1b7411dd CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd1e0a2-2fa8-4ee2-ba85-1bb9e5916289 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e540153-fba6-4ba3-883d-91a906c3d829 CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b757939-113f-43ac-bf13-b2e8995dfd07 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 733b877d-9654-4b65-86a8-702a458fe777 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6658643c-cec2-4ec4-bae8-e5a6450267d2 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b342e68c-79b7-4648-9cb8-baf20045b61f CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514c52cf-a0c8-4c5f-b8f8-fa11da74e888 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acab33fe-535c-4b9f-8e69-97b49f814135 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db320ec-6fd3-48ac-8341-969d3abbc2db CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f12112b-ee87-4121-9996-b2d5325b19b8 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea24e1d2-6814-43b5-9759-fdb1893a8d2b CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ba7658b-8075-45c7-9acc-03c5a12a591b CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df09405-5abe-462f-9142-52a0ef2f6e58 CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f03b07df-8bef-4b83-9034-bab66b351ae5 CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695c714a-71f5-458f-996c-e75f79f95720 CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d36f2c2c-3058-43e5-9f05-a9619eee4952 CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d42566-0854-46f4-8ff3-3b15f29491e8 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35816f5e-aaee-42e7-b6fc-0deba5db4ef0 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08104a72-b348-4ce5-9fee-bff7bea829c5 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3e65eba-2c94-45be-862e-4b571aa7ee06 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a81576-240a-4ae5-a729-dd93388c50b1 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7085dcbf-e552-4fed-939b-cae1e916b774 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50b373f-e78e-46cd-82e8-a003305adea3 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e5f08e2-364b-4000-b39f-c663546a9bac CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca7985e-cd98-42b9-9b4c-1a88629793ca CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3468f801-89a0-44df-83ff-f71e3182a860 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9468c6e3-6835-4ccb-b26e-4e113377677e CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab252cf6-8d67-4dbd-9158-cf8957031e7f CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b396f13-5b97-48b9-845f-fb0f1b17da5d CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2aafbdc-d40c-48d6-b19c-da0603830fad CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f811c185-6a5c-41d3-8329-762469877c0f CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ec1ff57-136f-47cb-8eb3-382af00f3075 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538f1d7e-b401-4efa-8d25-78a2b2df3b95 CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a78df1e-ac9b-4698-9347-1e3e5ffcfa2f CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f4eaae-3545-40ab-9fe2-a6b9996fa7b9 CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa46bd25-0bab-4b87-a38c-c3b462e34c5f CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44222abd-adf5-4617-9e48-50f699414cef CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec3c64fd-234c-4102-9a2d-545491e6abe9 CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ea12f2-b7ad-4786-ba82-5d82d1d47b3d CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 159b550d-fa4b-4880-92b8-21be853651db CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca16b97-e99b-4e92-b4e9-4dfede3253ec CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dad3c92-7c33-4562-a1e9-b1081b649c54 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ccb70cb-c082-44a2-ae42-a1659f6fe61a CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00d080dd-5287-4fc2-b485-288b7e9abfec CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed55668f-4504-4da6-82e4-3e8e66c4e9ad CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b36fb72e-cc33-40ca-9f83-8f8f0bcce64d CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8407d2-c497-4a16-bb21-aabbcefe76e2 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79608fd1-412e-4b51-a19b-12b47bb3a5fc CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56673326-e9f3-42c7-bc9e-9ee0aa94da28 CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ec9465c-28bf-4a22-9ccb-a42bfa9f0b48 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296896e3-2aba-4634-9507-a651367eb381 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f58edbed-0631-4b3c-b813-6820aecd7b10 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df41437a-0270-43f4-b953-4484b7255758 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2248864-ea7a-486f-afaa-9a9f94f16d16 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a4a572-f0bc-4d30-97c4-4f10b30e2c0d CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35696ede-441e-407f-a842-ff29cd6e0b49 CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2856aa64-f556-4819-9b4e-8cfdad37357f CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48472e12-0d97-4ce3-a79c-2e0565b0e521 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93285c46-f801-41ef-ad28-2cfaaff98010 CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f41076a0-064a-4423-8e0b-39bdb4f8be9a CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e937e9d0-3a95-435a-9f49-b6c3726c253f CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4d7c926-a74a-47df-890f-3a25b835f1b7 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbf7add-cb98-4f79-bf0f-7c5d6714ca38 CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0532007-698e-4975-bd59-e743e5b6b80e CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ee676d-bc0b-4ed8-80ac-dfcbba4a8533 CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a9a157e-4e93-4d61-a54e-3eae9516b1c1 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c78d123-dc17-4035-b90f-60b9a3dba471 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38bb9c05-d6a9-4976-b0ce-a6018b1788d2 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb3a9fb-731c-4650-bab3-342952edab23 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f20b184-a36a-4cf9-99ca-258b05030518 CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f61df0a-a9bf-4c14-92c4-1f68df24689c CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53d0bbab-bbf8-48e0-b295-538532d31c21 CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecb1e67-0b05-4ebc-b4cb-279162bb1df4 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a603773-3d44-4e4d-937f-b5ace1095a61 CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a336e8-e818-4e5e-a063-aef3babb07a4 CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23549f1e-e33c-4d28-9790-12427f5a5d3f CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb5b840-e836-4b24-8255-2316ffde8854 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3c4061e-8424-453e-8777-8208f5807e3f CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb9a495-d3e6-40d8-96d7-f9cea3bef0ee CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20f08d40-6e58-45f0-a3fa-40cd6b19d355 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5972127a-7d6b-47e2-852c-6404760f95b5 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4760a188-4515-4fce-8d83-d69f921e8c86 CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44927c83-e8e3-4269-8894-a6811a150cf1 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90a762ae-ef0f-4edf-acfb-807b716798ce CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897dafbe-0358-4a9c-a989-04b3fc9a8c77 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5002e66c-9ec5-439a-9e35-5384c2700bbb CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d183b981-ee0a-4f8a-835d-e1d86e40ccaa CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fed1367-bd33-4807-a787-c574223c18bb CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a738cf-e3ec-4f98-af9b-c2abed579d7b CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17be4b3b-012d-47ca-9e31-5ae021426650 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a927a4-22c6-4b10-a2ee-759b2078ace9 CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ff204f6-b084-4bb1-b1e4-85d70cccb34b CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68336aa5-862e-465b-80e0-885234f85f3b CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f1f4d9a-b09e-43bb-925a-631f4a20711d CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf82f7d6-09ee-49df-8aff-fb8bfed31933 CLINVAR:1652693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da4d193c-48ef-46fb-9caa-480047cdd0b9 CLINVAR:1652693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401d367d-8145-4f1c-8a38-636ddb37fb97 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea27e2a1-6935-4078-a705-49f633677d73 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4317496-13f6-401a-a6a6-104eeb26b6e2 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2990356-8d57-4233-89a4-5f570b851ef6 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691533bd-8d49-4bdf-9d35-8a33d3edd9e2 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5af904c-2b3a-4a01-b2a4-0acf27ab4029 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e835071-4834-483d-b40b-ca6fa80657b4 CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c97179-48a6-44c9-8bd3-a36cd8739771 CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6b1685-726c-44d2-aee1-75385082bdf1 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16fcb47b-fa0f-44af-8ed9-d698d34ad439 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea0e88c-8f79-4c25-a48d-a78c73f0ed03 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 941117fe-12e2-4786-8bf1-34bbf1b4504b CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80fc922-b2d3-4dcb-bd73-5bc5441267a3 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 199a1870-f32b-43b1-8393-e8a82af14a7e CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b5e5dc-4cb9-4804-8619-87dfaf116e0d CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c951e68-b582-416a-85ee-864c9cf15de9 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccb9f49-eeea-47c7-965d-c690f256adf3 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0546d780-f1fe-4a01-97e8-011c368e31c8 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80e92c7-9051-4fb8-9ecd-d82e7a613370 CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be3cbb29-a0a6-4e84-8f7d-5a301fb1d746 CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26f2dc8-0ac7-455b-915b-4bc64fa7e49a CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9efe59e-6b9e-4c54-9f1a-dda1a95a8f17 CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a96cdb2-2f6d-4cd3-8241-42d4b7ca7ebb CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d98e130-10d9-4ed3-827d-e97aa8ce741a CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2e7351-fe27-4a63-91b9-991bd96c8a95 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e08d2c8e-5886-4bc1-8b40-2ad21793db9e CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9acf99f6-d51f-4b98-938d-a03c12848762 CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f5cf59b-0d51-4a75-b3b9-7c05425a7c58 CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b20cb57-edbe-4b02-b495-2f120b9d54fc CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c232310-dc4e-498e-bcf5-586dbfdbe33e CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c29de1d-7626-40cf-92f0-e81516722496 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbfbe7a2-03a7-4529-a36c-a45594d1bf7c CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce91d4b-60ff-4dd6-a847-bbef65e41863 CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2388e390-e508-4433-ac2a-f1a033eac8c3 CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f092e9c4-bdcd-49a2-ae8d-1781eae256c4 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a58ac09-19c5-4ca4-8aad-9d0bef1dbeb7 CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467fad22-1e1c-4f72-a5f7-787e1bd74bd7 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6f20d2b-c2bb-477f-beb6-b30ec1fc1d01 CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81291cf1-fe20-47ca-ae2e-b8e8b551ec15 CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 530a7b3b-a055-4d99-b84e-73f902b9c975 CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f189b0-2731-42b8-8057-2113f2c912d5 CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d5857c4-e830-4002-874f-0d4ca7d21f1a CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fad979-44b6-4430-9d38-b4aabbd40b87 CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa78d12c-5032-4047-9fdc-88e27b5ba0ff CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c78de9a-7dfd-40cf-a517-525da4182cd6 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 783f4d02-e6d0-430e-8879-01100c878ad8 CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f94ef2-0319-430d-9b5a-4d362ec63456 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2970cf82-cfa8-44ec-b7b6-cfe52ae14fc0 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca2164a-369e-43ce-84c5-449ca0233c6b CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68015e37-ce96-43f1-8f79-83804a56b40e CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b54e612-0a97-45c9-a6f0-8ee8f324bb2e CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4ceab69-e979-40ad-96d7-12c4a1da2ea5 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfed2a3-78c0-4437-b13d-988992dfbb8a CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90a251b5-63d6-4f05-b992-d308e493bdab CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52845a41-a6d4-4717-914d-9b0906120202 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90d7a3d8-482a-455f-824e-28d26bff54b1 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c14e4d-40b4-40d6-b4ab-83f733b5b7c4 CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72b21980-cdb0-4d10-8956-0115252764a7 CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de8201b-203b-4566-b9b2-d1bb187f180e CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea6a76a3-9ba9-4d6d-9fba-991b1ab86ed1 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be34613-25ed-42a2-a22d-1dc319829913 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0577bdf-5b80-4d83-aa4d-b1466f530e3b CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f63c4dc-65c4-454b-aa1d-4902cfcf21ba CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67f4e16b-7b87-4782-952e-b8ed76321fed CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52fbe640-5892-4630-bb88-09e4168c202f CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f03f198b-c88d-47ee-a79b-1aa6989b0773 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef92b2d2-1943-40ff-99ca-32d0e1ce68ac CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a211876-f015-4ec9-bbb0-d1e0f32427c8 CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a1b11da-e252-4b22-bcce-ff06f6d16e9e CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 185a5ef1-999c-41f1-ba09-152f0b691e2c CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f086ec0-a02e-478c-b5ae-7b20ea534b25 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d6d3a9b-c564-4a3c-810e-c13c83f58863 CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b59649-d3e6-4489-aa63-299c05a3f40a CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9607e11-23da-4776-85b1-d9e7101e1a4e CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84036039-d971-4188-9e6f-3b5f68ed70f1 CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 692dd603-4415-409d-8277-1cb8688a3e3d CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba0af7b-dafc-4b64-9b7e-1a628cee573b CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52649252-a327-4f04-84fb-7fde3e9a6cd1 CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8559c988-c6f9-4212-bb84-4337c0805f50 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9056302c-7f1d-46e2-a3d4-a333604b06e9 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da238dc-7360-4c0d-b853-598a3a051a9c CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a768ec9c-4bea-405f-8c06-c06b0a4551de CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bd696c-e151-4cfc-9e33-d8e1b20a35a1 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf720865-8816-4717-9275-a9601c75c555 CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2139a2-198d-42d6-bc24-3e3c27d2b0ea CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae23feae-2b68-4964-a5b4-894928ab2f41 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369bdf12-e85d-4fe9-b7da-26b0602afdba CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5190047-8248-4664-b4f0-086abcade47b CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f13bbb-b9e1-4184-aae1-1b319be05c1c CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6773276b-a6cc-4b2c-8144-57c18b313fcb CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d080ae-672e-4609-9ba4-45a68bd1cf60 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34248805-e37c-4232-a6dc-c486b88162c6 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af03e546-37a5-436f-a21e-dbb671e1139e CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ebb9df8-8492-44a3-91ba-5b42abc6dbf0 CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 444549f7-42dd-4554-9c71-cf5a2a33614a CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c16ff6e-d7b4-4ca9-ada7-350a2fb30995 CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4de25f-226a-4a5e-a947-25138472368a CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b96ec214-20cc-4d0c-beaf-2581cd48328d CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a63a82-9e5a-4f3c-aa90-b6b1d84bf92d CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f75d5a72-8da4-4166-b8fd-3b9cea4931e7 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c88fef-dae0-41a3-b6af-a490aaaeb4bc CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f2384c8-69c1-458c-b3e2-6ae7b4aabc59 CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67531ab-797f-40c6-820f-b47c098315e5 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a664c3c-bcc3-4327-bf84-7bd1ada33e50 CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376e9e3a-cec0-4a39-a938-7c1086cdf1c1 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc6b6948-e45e-481e-8cf2-68d7f3701a4b CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4091a1b6-f23b-4d44-b7f9-57b33086be88 CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e133f97-8200-42e5-bd48-411a41d9c561 CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24a0ea1-5a9d-4842-a707-a7969c04b780 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fa58a48-3298-4e0c-8c5a-7312dd6a7966 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7b039b-72a1-4e59-a237-451d5b7e4f5c CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76ae5520-7c31-4fcb-ae86-9e2d900e0a75 CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054849b9-4447-4c6d-962b-aaf602e7c34b CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5520921d-39d0-47e0-8d69-9a41eacaf52c CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe40157-c87a-4171-891b-21278b420c8b CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d325d2e3-df84-4daf-afe7-e04e7832289a CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8553afa-4bcc-465c-845a-f75f76e23da8 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a98d9df-5a32-4fa4-a619-73484e921b98 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55f6811-069d-4884-93e7-77952f5321f0 CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f12373ac-ccbe-4d6d-8b17-71d1fb61c7b2 CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75c97c8-d451-4615-b398-e025cd03eee2 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7752191-3e2b-401b-bbfd-a1d20cd6ef48 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9084d3-d01c-44c7-a725-e6a0f0d790db CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae21005a-d53b-4e32-9e63-416273a8de45 CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddad319-8de2-410b-a5ef-5b3e75a92155 CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfae788d-6cc8-4a76-804d-dc386df5746c CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89af78b-23bc-4720-9437-53256c4d805d CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e73bc85-f634-4309-8f48-c1bf9d1aa152 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f12371-afc6-489a-8421-4b0928569070 CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69ab6ca6-9b57-4973-adb5-584844265ea0 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebb05ad-b4d8-41ea-a685-14d4ed4e40cd CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d90d674-1989-4ecb-a64a-0670b6af51ab CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda22b45-a086-4167-a0d4-100ac28ac124 CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5181a59a-47ee-4aae-9861-aad23d2fd4d6 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52190d28-3ac5-4ee3-a4f5-a62d4055aa42 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6bc2bcf-8b54-41c2-9298-471177d14833 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a09300-578f-4152-b1db-8728ba57679f CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b35ef3b3-3a7f-468c-9c3f-740ff91c8426 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8933740f-7c06-4b6e-ab08-bc92a60c90b1 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4151c028-dba7-4546-8acc-846a3c44cf74 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17eb30d0-cf08-43a3-927e-9888b4518503 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c734991-3485-4ffc-b740-942843cdb568 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11fb812-80f7-48c5-abbc-51e8ca09aaa8 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60238db8-7e35-4b7f-ba17-d7135a3df09b CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d60d68-d64f-4f8c-ae66-b35fbbab4248 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4de1da2-99f3-4819-b176-00b95293133e CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57f83e4-dee0-4e43-b749-ed699b546c71 CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2385ae32-6495-44b3-b585-8525eac3f328 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851520d3-36a2-4f87-9c5a-b3e75a5bb977 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b6e2f5c-1c70-4dc2-9d10-21396a5aa5cf CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8da220-be9d-434e-bfa7-e98544e87daf CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40b34238-8de2-46e0-948d-a982a157d743 CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea8cedb-259f-4972-abe4-0f64cacb5214 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 885a0095-fd93-4059-9595-3d1405d0579f CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362c4993-48a7-4754-9d07-e7a06adc7238 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6ba99bf-a3dd-4f79-b11c-2058a5bafd5a CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f16e33e-ea10-4608-b33a-78f336966ac5 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a014014d-7c44-4055-94bc-94e016ae0136 CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044964e9-0e82-432d-b723-c0ed5f15c995 CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 557b767f-395e-4bad-8ebb-bf8f572f59d6 CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7920d57-5e94-4e25-84c5-ffa6e6f15764 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0596adbc-af6d-41ca-8f55-a5112d8fa160 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5c1a1c-32fc-4fd2-b7db-d9d9ad11b4e2 CLINVAR:561250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a96ebd21-4413-4044-b609-6c44de79b6b8 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3618794-4e9c-4c33-8e58-1006cab6c0f9 CAID:CA410207975 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 640d829d-ab49-413d-b67e-b2fdbc062b7d CAID:CA410207975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cb2ad9-ea54-4895-9825-6e73206c3808 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f4320ae-3caf-41c8-bb05-d34d12578136 CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb9c4ce-2050-4771-9c81-a99d17b5bc25 CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ba6641e-4db1-44f3-84b2-383187e095da CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e5052e-afac-4cc7-912e-a7641af81a1b CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94ba0a94-8bef-481e-a4dc-9c7150be5a96 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0a91b1-b238-4cc6-947a-2745f5278eee CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 290d328f-86bf-4c23-be22-fd59581a689d CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d06219-9588-4c80-a6eb-14fe74095edd CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb1d8a84-df76-45f5-b6f9-bc0ab8cd3d81 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333667bb-e8fe-4cff-a191-64a8a38e3c98 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 615acc5f-1fb7-4dae-9ab4-5e3f09d561b1 CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bcec3b-5130-4055-8288-3d6ad92db4b5 CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a3820ed-430d-4202-b1e4-467782bc0c6c CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80c6eaa-6bc6-4f21-8ee0-a0de6863e9f4 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9164bc39-8c29-4727-9c05-474571d36b68 CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44305cb1-bcb4-45ae-b4b8-fccfe6a3b7a3 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5db9769a-110a-4a8a-8d18-dd5bb94a26cf CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1fca4e-f57a-4386-ab1e-cd389113fbd7 CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f108d8f5-edc9-4a07-87c9-140f48e5ade3 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22abbc7-89e8-496e-ad67-c9e9d26b0236 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22f343bf-fd4a-4038-8e30-2e3af36ab85e CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eac41f8-e51d-4aba-b17e-7a6fb715ba3f CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8aa6cf24-3417-424d-8820-7675fc771173 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14fe1b1-9d91-44cf-84e4-11d7f6377e2f CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a686724-9257-4b2a-9dec-8a12ec03c627 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab3df45-9082-4cd2-8e13-4796765296f7 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65e00f91-b154-493c-9724-da089dfdd61e CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e627e4cb-1d12-4130-8807-b880a00d91a5 CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdc0d937-ef39-499b-8827-773d50fb2571 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af50af9f-80fd-4abd-8b9e-cbc7a88f3530 CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32653917-89ab-465c-b8c1-86e7af182d70 CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d66af2-de39-4249-a6ca-86173ba611c7 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50abe8bc-0027-44f6-8fcb-68cf59cc0ec7 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8def4d1-c0a9-4706-bd8d-8eb5817d0073 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 285fc15a-e3e7-47aa-933c-3af2376c7795 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e9c5bf-985d-431f-b2ba-032152794ea5 CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 586bb478-3c47-44a8-a63c-b5209ccd69d4 CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fd8729-f252-49ec-bb4c-e6251e0a7c57 CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eab723a6-18d8-4c9c-b9f1-0f365fe90acb CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2b25a6-9683-4db1-9e8d-d4bd76ce63d0 CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6db85fb-9372-48f9-8829-f3c7b9902b63 CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3772428-4362-4325-9bdf-04a011dda5e5 CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78254e7d-b8f5-4928-a46b-a8c75086f4dd CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da9895e-ff85-432c-b0c5-ab0dc9700f51 CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb23dfdf-c17e-4c59-b691-f2dd1f0ed67d CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc08bf2-c1f2-4574-a6f5-5696f865e2a0 CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3991caa1-af47-4ffa-b2a8-8ebe5a1aeac4 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14c5444-ff3e-4427-8e6e-6c369386fa58 CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84081b24-34fc-4dac-b640-b8359644d5fe CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7cc14a-28c3-493e-b99b-382ff006108f CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 621c5c13-f7e7-4e5e-8523-781b5d6a99bd CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1221da0-8d9c-4fa0-8fda-84e159a13f02 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5ea2836-ad26-4112-a041-38368fd28385 CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa12ad4f-dc6f-4349-964a-dfbc0a4524aa CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e1f6a23-a53d-4284-bcb3-38db086c7adf CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fb1940-6e54-4d06-a8e6-c3adfc4abf19 CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad95dac3-b18b-4575-aa45-dbe6b2f9da6c CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cc7976-33f9-4c18-ab8a-8343cb920c2b CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b5b296b-4a90-43e9-b5a8-1dbaf13814a6 CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6013e9-d4e8-4588-87e7-d60c4da47795 CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1aaebc2-feb3-4568-935a-5fd1750cb3e0 CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e0fb9e-a5b9-4f7b-a24b-51f01a2c5fc3 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91c1685d-6bd3-4df1-8b63-4a6837352aaa CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e175b4-64f6-46ad-bc63-b4f7d06e520d CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e8aa259-5654-4a7e-b7b6-407fa3eacda6 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f485d04c-1a48-4512-9f03-ad025607caa6 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bda54f09-d131-4ea2-8797-754b11e3c0fd CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cf3f4d-ccde-4973-8208-257b9a838f79 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4150a5a-9460-4dfd-b393-78a7e457399d CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9fd04e1-ea60-4a7f-b896-4241b8f37c4a CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73c56f0b-bff6-429b-bf83-a555baadfcd6 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef69d68d-5909-4331-8210-1cb3ae3c157b CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29e8dc39-2376-4dbf-a37c-031144358b23 CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5919157-4064-440b-98fe-b998e33d78d5 CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c3a2606-bf55-48a4-b7b9-ce202bd322e1 CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb11cde1-b508-4961-93a4-1a1b3d61304d CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d761193-3f2a-4a0d-b8cf-582160780aa4 CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1883f042-4b19-417e-8f10-da615a5415e2 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24cb8d7e-b12a-4e8c-831e-f65c8f4972ee CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679cf65b-d1c2-4ac7-8072-bd75d4094323 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c0f8b4-98db-40af-8258-935088a4845b CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342f9713-fba7-4099-b079-7bc9f4ed76c0 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e62abc2c-9163-4ff8-88b5-04aba20e8b82 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d31fe19-23d1-4f02-ad20-32e6b8ffff3a CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09e6e48b-a428-41d7-a6c4-7a69d99a5b07 CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3df1a4e-960d-4b74-9bc4-f02ff548d93b CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff452360-b90c-4ad2-ad9d-e8e859c19395 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7d207c-1eaf-49d0-a5fe-c7a39fe87d2f CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7590cf3c-6488-42cb-a055-bdd8955685d3 CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ff96d8-315e-4186-ae6b-9adeb451881f CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14dba3d7-3a95-4b43-b350-25e473bf3c8e CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1282c0-b5cc-415d-a409-5f1251da915a CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16dc3cc2-5cf6-41b4-8f04-41452f463971 CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26840e48-55a4-496e-bd15-48e2a77c10be CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7f6209b-654f-4a54-ae7c-4fc56a858e33 CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0d41ad-9701-459f-a48a-a6a157bba748 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ec4e498-8b40-4aae-8255-ea96953748d1 CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10301a14-0491-421f-b934-cca16381f44f CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9499adba-6f74-4ef7-b824-4ce19bc0c5e7 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3de77f-5bb9-4fec-98e5-1740c400dcbf CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8428fca-efcd-47d7-aa2b-a6305e9983ed CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1572933d-5dfd-4703-ba04-ecfd27ac7e8b CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a421bb6-c012-4892-a163-5eaa2050c8a7 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a9770e-7bdb-4f0c-8611-9cd6e1309953 CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4cd331f-f163-469a-9151-e5939c44289e CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36e9f7e-61ba-415e-897a-261980c18938 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92349a80-8d20-4e52-b82a-b6b6e93a6f8c CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b73aa8-efbe-4564-82f4-81f24b83d623 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 988a0fb5-ae08-41c3-8354-50833b581adf CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6c850a-0c58-4394-8f23-1cbe40f74e43 CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen faf66aa4-96cc-420f-8483-559974422d20 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffe1d2e-4a3c-4b97-aa90-811e20da2d4a CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e43e09d1-8718-4e38-a828-cf28b1110ddd CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0a3ae1-a7ef-4976-a844-12aa3bcab2d2 CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88416133-1f31-4192-985c-89d73ec5981a CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f96885-3a11-457f-b4d8-41e6a24ba51e CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d52434e0-c499-4005-9664-8cfd7c9ced23 CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cca4669-1c54-457b-82ef-4338d6a823cb CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec137585-5fa9-411a-8c6a-bc33d21bd8e7 CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72865c94-4ed9-47bd-9ad4-62f454371800 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a721c59b-15c1-4b33-839f-2494ebc22f06 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5874ab0-5a94-425d-8ded-87a4455823e9 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85368bcc-f40a-49d1-a58b-2ac55201df42 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bddb691-85a7-41fd-9ec9-82c50fb082f9 CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13148ab1-ab76-450a-a423-e3f4c1be8f39 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85601412-2cf2-41a5-876a-f770b73a00b7 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59fb6712-984a-490d-96a4-4dc608be86aa CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa310ec8-2c99-4d83-95c2-3904f9d7f585 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45aa8a55-8e3c-493a-b090-6e0ae8b038ec CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef17ec4f-9eaf-45e6-bbf0-e657d5970323 CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e1c6522-2d84-4d5c-ae12-6819fda11c8f CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5a0c5a-2190-43ca-9e7c-bbf31466563b CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8f5389d-3edf-4081-a71b-6417bd5f57b3 CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9049196-1553-4257-b941-8f4348163e05 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 369b7c1d-57fe-4957-8c7e-f5da42039ebc CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5bb478-26f8-46b4-821c-8b2cf8d11b2e CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a511b50-2eaf-4546-8f8f-35a835b4a9af CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23864b28-e6dd-43df-8c33-57e1646b1b5b CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eb9786c-3b5d-4af1-9ed0-30d05b7ed8ec CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a409efb-70c1-4952-96fd-c1f9171e9831 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c64c2be-b4d1-4104-bd73-1bdeee5c9ab5 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623e775e-b5fe-4fe7-bd29-383604e0de03 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b414790-0cbc-4713-80ab-f0c014836cd6 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3961d67-7eb6-41db-8063-ab36f6ad598e CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca57e81a-27eb-4da4-bab4-42ba9573abba CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363cd0b5-15ad-42c6-8ec3-e3369f769f9f CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 657c425e-f621-425d-a5be-132aec5266f8 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4e4e55-d018-420a-bf85-c17e40419156 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14afd658-cbd9-44f4-8822-74060d2fc745 CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d782d6-2838-486e-83be-2ddebbcbbcf9 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b286cf62-5d8a-4c15-be6e-420fc1988907 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5049aa3-77b4-44e8-ba07-cbe8a92b71e3 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e5a12ce-4cf8-49c3-919f-1e1d933e4042 CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a6e403-949e-4409-9050-3c7a1e2d607f CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc59f96c-d02b-4137-b444-af32c4a44cc5 CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e65af98-d56a-4c7c-a3d6-bb867faa32c5 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b31cd24b-d287-469c-a857-3d8a86d74a45 CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7ee265-d855-49c6-9b55-6d57188e40bc CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a46adfb6-57e3-41da-a209-ed9f201c16b6 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95b4c48-5fc5-4bae-973d-e62e8a0d054c CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc75937a-1cbb-4e5b-a791-29ede0cd4fa1 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41685067-76ca-4c57-ac95-0e12f0705a32 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d471465-a18d-418d-9849-02e4545dc414 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2ab7fd-2440-4740-9ddd-7b11b6222734 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e44250a-09b7-4554-a570-a00e34b5ff00 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0250f8-b5a9-4042-8446-2adc3062ed02 CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa64036a-a6ae-445b-ab67-8b19c7ad4da4 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e865105-f5a6-4dee-881f-c4ae87d50212 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb752747-640a-4ab5-b043-c5ae4c7afb74 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738fdbeb-9024-4f29-a87b-0d2ef2d9ce72 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 437c962a-a827-47e0-8bbe-67c1b31652e4 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f94c96-11e4-459b-9f63-9ea430b5d0f3 CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb2b8ee4-6aed-4bdf-8ce7-7c26372616df CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7e8e30-13be-4bc5-ad39-ae3082b59f5c CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0208569e-c93e-4850-8590-add1c1241680 CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325df2cf-e231-414f-80e6-2d8be5f6c629 CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 916e2db4-7b7e-485c-8dff-ab0a8d11d069 CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5236fdc3-e466-4978-a38c-75b85c9f7bdc CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ce851c5-d446-42c6-88f6-7fd61ce749cd CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04756177-8ba6-4bf0-99de-68691d5f1ae9 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74c2c3a6-6578-4676-9d1d-ef27290ac8af CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0f9d84-a5c5-4c94-aa8d-a947ed7f4d06 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9195e94-b5ec-4132-88c8-d704383d26ff CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ba4303-bd07-45e1-8f3f-b43cc73f590c CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e50116d5-c203-432d-a9f5-d1e5cd0173d1 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4e97c7-c853-4b5d-9b69-7e0fd1a4f41d CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39321b66-19d4-4980-a6c5-123f9c566aef CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f1e453-a56b-4f38-a02b-73e20092d541 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cca5aa1-4d20-4e10-869c-1bcf4ca4bae3 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb6e932-1f80-47d4-b638-28cf45021576 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e722b53-5151-441e-804d-25873f501cf8 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e9d0eb-7f96-4a3f-a3c6-f902241fa75a CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e46037cf-1f35-43d0-85c5-2080b1a57ec5 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cefb2f-0122-4d38-9f8c-f32e04eef158 CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 505755f8-1fca-47a9-9d65-90a25290c9ff CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6fc3829-51e3-4091-8e51-a28b2ef3ab95 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e996d8c-a981-4273-97e1-edeb3a7a30a3 CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f99e837-3103-4da7-9e27-8ae8ba7f0b13 CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26ba3808-f87d-4ee6-8209-d2fe62e3cc15 CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d1ae4f-19a4-45cf-8063-6d2a12c094b4 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d50d7fd-1c8b-4096-8982-2b5bd035d279 CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a9109e-31f1-453f-a0c7-73a81827f05c CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50a14722-7e87-4ce5-b659-9dc1048dc95f CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f4ad3b-62d6-41ed-8367-eaf7a1657c4a CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d1f307a-e68c-4f92-b927-90b129aeb83d CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea953be-cc0e-4bcc-bf64-1829c875b526 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21234d26-1182-4cc9-892d-c3f81ba86405 CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74bc1ec4-cfca-490b-9866-14417044311e CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3607d788-7b02-41e0-89d2-952262051b68 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21384dda-1c68-4a80-b731-e8ca579e5828 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c5d4169-afa5-4b5e-b500-b075ae0de28b CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe315757-00e2-44e4-91e4-95dce50fbc0f CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0015c7ce-bb05-4302-b3d1-f04744b3bb69 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c71f1f-cc40-44d5-bb93-914784152665 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6e1a1d3-1077-4ad4-ba2d-9cacf80828f4 CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363eefe9-f9f0-44ae-8b2d-78c37d9a6bb8 CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e934122-36fc-466b-a10f-239caf8550be CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd59fbc-8850-4888-8fce-c07181c16634 CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4223069b-bca5-4629-9232-90770f0b16ea CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c094b813-5de1-4a45-9c76-22f4ad26ac10 CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2514751-d2ad-475a-bb57-4494650b06ed CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6f9b3f-bdbc-49a3-a5db-6925b174adb2 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b5f23f8-1f78-4d06-b2a8-30f5379440f0 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fe6d19-4508-4b28-9871-8bec802688dd CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd8a2455-d305-46b1-98f6-ced6fc313c0b CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ce1071-e236-4dcc-9e41-8579e8073bf6 CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0ca7fe3-5b04-42fe-8ddb-cf49178e2c8c CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22278964-8302-475d-82cc-ffaca3a28609 CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d51a6cf-4fd6-45fd-9d60-30af8d123f45 CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f9c597-d52c-424b-b9f1-4d139ad25aeb CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33752c12-7c48-4622-8d84-63722e629f22 CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1f183e-becc-48f1-bad1-d33032c15709 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 083f49df-c882-4619-9ae5-3cdeab2e7f6f CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ad56dd-fba0-4195-8b5a-419185a352d6 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d38d9d9-3567-47aa-b54f-4c20ea6b75be CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbeede7b-0578-432b-870f-cc72452189a9 CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23de5444-5559-4971-ad40-51d680b65d71 CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d629da-32f1-48c2-8c90-d753b3a2a148 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d0a5491-ad29-4738-a1be-05f095bec54d CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6744665d-9286-4922-a216-f3f1a1c10120 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79568037-f510-4561-8b0c-5466d79b0cee CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bf9a8a-1aac-4157-97be-ae1c3acca0dc CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 870e6a3a-96dd-41fc-a706-c5ecf073ec9d CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fbd1a0-71c3-48b5-a815-19e487ee7fbd CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96467e97-738d-4bd7-b48a-6e40e1737bc5 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1537c9-88ca-47b3-b53e-ef0ef6ecbcbd CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4595f7b3-d875-4196-a6b6-23f436b1b134 CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40be29d-972f-49ef-a329-efc1db7e9830 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7e76f9d-af56-422c-9553-d64ad0d2f114 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2c5a9a-ebd4-418a-9823-e4b68d155512 CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b65b7b9-425c-4a7d-b9d4-83d085ef4e7d CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4497c7-5410-4de8-a4c8-fcbcb713550c CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 251067b2-0ac9-4fa1-9868-5f5d14dad57d CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11bc90ca-c08b-4435-b8e1-c9b07a582448 CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e42e48a9-492d-41ad-817b-87e05801cbcc CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dead33-8b04-490d-bade-affe824947c1 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64cb4cdd-2044-4739-b5f8-ff6ffd548d83 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33435fe-ea5b-4e36-8043-09a5e798df70 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6579e69-e255-46ef-a6e6-7df0e4f6a5b4 CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0351a61e-c4dc-4450-8a0f-3e22f3a52f01 CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90e92baa-1efc-4e93-9612-80303f6e4d35 CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7fbe98c-cbd7-4c84-b321-b33f90adce57 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6587fd39-69d8-49cb-ae3a-c46c012c4aa9 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8f736b-f7e6-4e69-bd25-ef342727b6e4 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f548181a-5c97-4e13-8f2c-600efe56911d CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58880d38-0ec2-4a4f-8e84-a5f0f82ded37 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cd3e32b-5d72-48f1-8623-9bfbab2de9eb CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c63130a8-58b5-4d8a-8c6e-6eb02974b619 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9163c1c6-b9cd-4545-9d02-6c9b7d695f49 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df2b8a0-ff28-43ab-871a-85426221a399 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3085c9ed-4bd6-4122-9619-ff52a92bc296 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac4b34f-7729-4e26-bd0f-591fb7072521 CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4af7006-7f60-4c30-ad03-1851adb4d567 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6214a94f-354b-47f2-ba24-70ea127f5bc7 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42b452ec-53d8-454d-b65c-4786cf4d2bce CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1839a989-7424-40d8-af22-8e376d1725de CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 512bfc25-3d0a-4643-a265-7f499b3f6097 CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65237e26-62d9-4cde-bee0-a7d2d91d2f98 CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 263e7f9e-5e62-4f3e-91bf-4ff237665dd2 CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a9baf5-789a-4634-bd7c-5d820904dd04 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47058e88-eeac-41d3-b9b3-7e1e00775762 CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac15c48-c2bd-4e01-b391-2e837e4f3815 CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61292cc9-801a-451f-b1cf-a1ad8b83247d CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b332f41-950e-414e-b705-e1a40c8f1663 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aad6c48b-988d-4d28-9fbf-c71ddfe032a4 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baffda5e-a279-42be-868e-1451802e4b35 CAID:CA402991093 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4e474fb-dadd-4a4b-bcea-58b2d6abfc14 CAID:CA402991093 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ade265-ad51-4cc3-8d82-6ff5d42755fb CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b1227cd-25a3-4813-a010-aac7db6ffd92 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c30c90-6c07-4312-94fb-6429c52c5695 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58a35fd4-17e7-4f7d-9496-a6840d8dda39 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef9defe-8a92-4a74-a88b-4ef87a6b18ef CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 484053f7-7689-4181-8f17-c04790c82cdc CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa193293-0f24-43d7-9911-897d3e5ff8a7 CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1b1d9aa-006c-4d05-9d30-e9def63e5663 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7985678-4297-454d-9ad3-249176b9d0b6 CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cb54812-285c-414a-aa04-32e86a7803d6 CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb66b2d-6a63-47bc-912e-e0c688746333 CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fb50e46-8ee3-4fc0-9371-ca8d5ff88758 CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7c8b3e-3dc4-4f0b-a185-e990c3d32608 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58012224-ddfe-4181-9d9d-4a1d368ff3ca CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a25815-d424-409e-b4db-2e5552b01ec8 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b84600a4-aec9-43a8-b72c-a31b908a6b8b CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7aabee-fc13-40c0-9081-8a452d11840e CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 239466a8-4dca-4b25-ade0-9d0573212417 CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af881d42-929e-48ed-8068-04718a5b8914 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6daa7d0a-c38a-4a05-9762-05423676f549 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66bd157-b1ac-4a07-a968-7ecb967aa065 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d25e078-060a-421b-84e9-cd5aa27b9856 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace7b8fc-2649-4ab6-93f1-042c02802f05 CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 335b013b-6ba1-46bc-a716-c11d482a0e50 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c0c48d-7475-48cf-91ca-d35f0809c1a7 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71a9885c-d8b1-44ba-9da2-057f3fd9a33c CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8df23f-e85a-4314-ac8c-34e9947c56c7 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fa25770-b9d4-45dc-8e4e-01f2aeca3f9b CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39384806-22a1-4f1d-b7bc-f64b3eb46c95 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c975400-1df2-4c1c-859d-64cbe473ee49 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8bfa840-83d5-4807-8689-9bd880ab05a4 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c540226-8a5e-4575-a504-8e5fc8fbcd4e CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588a9443-fab0-4359-b8b3-b5cc383ae544 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d948ad43-d746-46d2-a747-654197c0a140 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03217428-52a2-4986-ab93-4f1f69a047fd CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c888de2-d863-4f17-a4a6-8b84e25133bc CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12eaf90a-0dcf-4c47-ba53-b85d1e8f4147 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2814eba6-aa4e-4aa6-9901-2df4f97066a3 CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d86c0fe-28ce-40f6-aa99-a5d9ab1b83b9 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f86a74f-e6d9-44ef-ae85-9f3bdd621c6c CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac8ccd5-be7c-4d8f-a8de-02299ae05594 CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76078b17-1415-40f9-8a72-13a8f0921aec CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b23cbe-3adc-418b-8007-bf74e6abc3d5 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32d9ff41-4954-47b8-8597-7aa595cab5ea CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35ce173-7532-40a4-b02a-97ed7220e5c7 CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 439c0e2a-eba0-42e7-8265-5fe45eabc65a CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2039e7cf-4615-480c-a041-0f6a495e0342 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79ae01f5-1c99-42fe-b60e-165235255239 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053e0c4a-3253-47f6-a0b3-f1a42bc739b3 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c880142f-cf56-4146-a3f3-0ebc8bb1c261 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159e0148-0930-4469-8b1f-d7d0ae317dd6 CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75da3cab-6613-4c1d-b66d-fe9fce79c42b CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b1a833-c74c-416a-afd5-e899f2c495bb CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c55a82b-e232-4c4d-93a2-fc057c220749 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79c9fd5-2daa-45b7-9595-c64a8395f7cd CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34e37761-1774-4144-a43b-7082fc4fc014 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce63360b-53fa-4111-a5fe-09a057a9a125 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae392f13-95f8-4899-a770-bb058f548fb6 CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9c181a-09e2-4ab6-90a4-a24dd6f45e76 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5d6b05c-3d3f-4613-94f7-bf1566dba00f CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 886e48aa-cd87-47f3-b3de-990d21dc627c CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65d38be9-e57b-458b-b098-2e5bb483c11e CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153da2da-3a14-40ce-b7b8-12a5910e62da CAID:CA402998134 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6181281-d3b9-47c3-91e2-301023f14764 CAID:CA402998134 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3868cb16-f40a-4f31-9138-574e02a9a7bf CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bcfe493-54f8-47c7-ba6c-80742a6df24d CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fbecad-9bcc-43d3-aec4-aa5aa362a0c3 CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3fc0b2b-bed3-4105-9ac9-0b1b6648041b CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d390d4-a0c2-421e-97a5-0e0f1de6e6ee CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dfa9eda-c9cb-4a89-927a-f6dafa942973 CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28d150c-fb13-4636-9493-12490906ce11 CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f60aada-fcc3-40ed-8ad4-11917c78ed50 CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2292570-4978-4a07-a587-bacb5fd7b6ee CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d8a8be-f684-4464-b238-98b06f9f4cde CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe3e023-1ca3-46a8-ba29-02928ae9679e CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ef17c1d-dde5-4a8f-8e70-7b3d88b1e8ae CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1051a6-2203-4300-b31c-d1837feb1b14 CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2937ebe-4496-4e34-92bb-b2932c21ef0d CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8397e0-5164-4b1c-8249-d249de140433 CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aaf5e334-95ca-4d80-b5b6-746b319d581e CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2334f08-78d9-4675-82d7-de780e3c1364 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b6cd444-827f-4195-9797-c16439802a45 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f773fbcc-a0aa-49eb-a28d-daa9a596c971 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53388249-ff7f-472e-95fd-0fb2ffe9ff15 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446110e8-199e-485a-841d-6df5d9d01434 CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0549f825-6cd4-4f8c-ad04-0d70a706c04f CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e26413-c601-411f-a096-d88e11d16964 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 443bb9ec-30f5-4682-b38b-1c31e737b2cd CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7612c93f-6bc0-40d4-bc33-747ee0751596 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74620f75-6825-4c56-a838-a37d9c45bde9 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138c2ea7-0376-4b2d-997a-06314f7f59e8 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20d05ad6-90cb-4da6-a1e2-f9a073f7dd5c CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66589b5a-565e-4600-aca1-1a64ead8bf25 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4c0ad8c-55f6-499e-a480-38ebe13a4d17 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f98ed56-6107-4559-9d1c-c702efa43115 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58c07570-ccbe-4832-b00d-f036ad322fb5 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d246d86-3b2d-4058-af3a-3e13a39f8624 CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76fbd4b6-1e1a-4205-8930-2add4cba0143 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab346350-cf8d-4077-bdc4-a66363d81fd2 CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58cde50b-7ed8-4eee-a420-4ec0b11074c2 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e59a7c-d4a1-4588-a905-f5d735e2b6c6 CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a67876d6-2f9e-40b1-a2e1-80b9be9fd4aa CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b3d4d5-d2ac-42b5-9964-ebf46e9dddf2 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2a0e2c6-e27d-4f18-882d-7af721f59cc2 CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709ff759-4f5a-47de-8e18-b7d5157fe396 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47aa8891-6805-4c8b-9363-ff40aa5f4fed CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d10c98c-e2c4-43c7-bc4e-3d90fc77f13d CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a867f99b-80b1-4cc0-b1c2-282fc188a3da CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7028dbd-1bb7-40f6-aa57-ed4b3ce7cd90 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4abbf210-544f-4be9-abf4-f220ed696c3f CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51405bd-a8b3-4244-9a65-5c1a61c148c5 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a7f4369-235d-46c6-bdec-7426e57cd558 CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff67fb7-54a9-4f2f-baff-0461b0865418 CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9e633e0-a4f7-4e49-adad-c12f602df13a CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59524bca-40b3-43e2-bceb-11ece30b5f5f CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3180ffa8-34d7-4c28-aefc-c19d30d1df87 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7d05d1-75ff-46e4-a45c-1a79caf0f015 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d67fbe4c-fb0b-475b-9ea7-7189482b105f CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9771c717-9835-46df-afd6-9b7e9fc8c539 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cc1dfd9-3e1b-4380-81a3-7c09bdb2b270 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910bc5d5-4309-4346-84b3-2df536c602fe CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52e3a932-0d52-43ba-b7f9-95fe02e8c5e2 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0120f95b-b894-42ee-91ec-c102ce4cec3d CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a244026-dd23-4441-8820-5efcb59a4447 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e689b6-08d7-4aba-b7f5-a0e2e231610d CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f0b9b46-289f-4c45-8660-6e48f76b0205 CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fccfe27-dd8e-4abf-b948-f0bd4439811f CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97162cb3-4a43-4bce-a05b-014ea279802a CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dcb26ab-55c9-4ecb-8bb0-5df40b75c9dd CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dd27014-a762-4edd-84b0-6fd90d27972e CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56053c18-60de-4732-bcde-fb64843819dc CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c35d8e72-117e-43c1-8fc6-7009ca8037fa CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d0829a-c720-4f4f-b756-650f11c385a6 CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71f0ff97-ac9f-4cf1-80dc-72d314f1eba8 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b843cca8-55be-4521-8d19-8362d9a0a197 CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1544913-6d82-4d31-acb0-e1d7e998b50a CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a15c248-702e-4481-aed1-bbe9856d6822 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11eb95d0-a5c5-40bd-b05e-007a739d9c25 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861df187-77a0-4231-a77f-17976112abd3 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb8026d5-b0d4-4dee-b1b5-aedf53e68be0 CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd47157-0838-4be5-8a6d-cf4cb73a2d6f CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5db51015-2416-49f3-80fc-4cdc8700417c CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce4ecf4-d905-482c-b25d-339b494d630c CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a73c4cfd-304a-4116-9bc7-8d16ebdb0051 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32706abc-0d37-436c-a127-f4250aafac91 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42ef18a2-e129-42fb-8279-4370d460a26e CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4aaccd4-d071-49ee-af27-c513269088b8 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8d1edcb-b919-4a32-9fdb-148f8887002a CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4f5c61-7844-4b1b-90cb-b105b3daf60c CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e58990d5-60e0-4469-8149-7672e16d7501 CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65cdabf5-8b6d-4b31-adce-75efd681f05e CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 293cf7e6-ad5b-4b51-9f3f-2f607930bd95 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7ad1a2-65df-4b6c-9d1a-58e5e843ec66 CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c17d66b9-ec45-48f0-8bf6-4cc6b13014a8 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbcc506-da6d-4b8d-9d02-2d3eae1ec53b CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bda7bb8-1c89-4c71-b6fc-f504d0857197 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eff6777-babf-4f40-a0cb-3c04a3b31d42 CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79127104-fde4-4269-ad67-c94bc155f137 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02dcadde-f486-4e17-be9d-51f1ec4f2038 CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa1c1c60-e24f-4575-b5b4-7175e4005540 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d487d5e-00f2-4a2a-ab80-3c7bf109ffd3 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5266bdd-7866-465c-9b8d-ff9acd8399c0 CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ccfe69c-b29b-4e3c-8bc5-549a2b243682 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d209771-3de5-4a16-9437-1830b33cd860 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202b6da8-7469-41f3-9731-02da6ee08373 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83cc83cf-7942-44a8-808e-8a2fb5937c2a CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba4cf97-7808-4a87-b84f-5e94f3ecb5e4 CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34c28111-36fa-4d66-985d-a75f499d33c6 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e063c33e-1980-4c31-8621-5b4fe594afe1 CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ec31198-4447-4f04-8f5e-79ba12bd06da CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590293e8-dbc2-4d89-b086-dac09fbc8a36 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef741065-db52-4acc-bc5d-82e33046646d CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f357bb58-293f-4dff-9ac9-03f38af99838 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ea1dc5e-e096-468c-9c8d-d9f437a30abd CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f594fb-c674-4af4-a69d-3355a70d0e3b CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21e83714-c102-44a8-91da-60249bf1a8fc CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb632056-223e-4214-a559-c24ebf856cac CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2c03003-18c1-4f26-b0d8-752ad04dd94e CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48d79d9-7373-4487-9c82-1b6d57cfbf15 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 931ee915-a0d9-402f-9f26-f731f34320b5 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd4f783-366e-44b1-9c4b-85e9a4f813ca CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83864b9c-6af0-425c-9067-c96861dbde1d CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ce94b5-9fc5-4786-8986-ccdaa45e9733 CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75b73009-ce21-4472-9fee-fcd25fe87246 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5dd4f4-639b-482b-923f-9bc2fc9e56be CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dff3ce1c-4fed-4a2d-ae2e-e1bcbc00ab04 CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f450692-b0d5-4df1-925d-3f50a2438476 CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 665487b3-cc6b-429b-b781-c0f707a05da2 CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4149c199-3f14-4896-8dc4-dc3e5acd393b CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c741113-e60f-461c-9e12-f2c26ceb8f45 CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ba96e8-b009-4458-b27d-825c93348103 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1ff0636-fbe0-460e-b644-06a2c9e428e3 CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a4689d-a43c-44ad-8f01-23e24084f300 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 987b1689-d405-4ce7-a827-8cba92d4e264 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51a7079-1024-4615-becc-edd3faf5ff0b CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b9fcdcb-f2c5-4aad-a493-60fff9e2457c CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb04eebc-9b79-4f86-886b-cb05585cd696 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51e5f10a-1be0-49b7-b7aa-ab4821575464 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d486c4-53d4-4c22-9a28-b8eca06d6be6 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d0f19f6-bfbf-4022-87db-a809488c3db1 CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f93233-dbf7-4178-ad7e-13a113310c74 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5ed91fe-5553-4657-a73b-ccbd8353ec48 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081dca32-a243-4688-8b6d-a325c86c046d CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e0adb1e-76bc-4d99-93ae-b7d837babdb4 CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61447106-2b6f-4898-9c3d-4a9c0c9823e4 CLINVAR:690455 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3d8bd0b-4ac7-4f5d-933a-80f222d1ecf2 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38af159-37ce-415d-a5e5-018a96a214eb CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57e198c6-4e08-4372-9563-7f74e4959a07 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd623e29-dddd-4841-894e-e186bc053e3f CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19e6b1cc-4290-431f-a6b4-a83d3b74c36d CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43bc440b-3b7d-4623-a463-c565e4453e63 CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5854df89-e15f-4d08-ade7-90231896e2c6 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3a91b4-27ea-4138-8047-c9754a1aa35c CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f8aa258-27c6-4f18-84e9-54b0ea17ca4f CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f012f77-de20-4243-89a1-c8710ca838be CLINVAR:577152 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad05ac57-a657-46a3-af69-223ede8e81c8 CLINVAR:577152 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82585cb5-e061-45a3-bb79-66b5c470eca4 CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90b3b61e-a9d4-4b8d-9e83-48cb6541c243 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50dbb8d6-e8ae-470e-b965-810db5ad50e5 CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e87f1a21-26ba-4392-9d3e-0c49c9c1cc6b CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4bb55b4-a3b3-40e5-b89b-bad860409c3c CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f61d7e17-61d2-40ec-a18d-eb828c17d086 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cc232c-1830-4681-9f69-c030ac199381 CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06d39843-a450-45c7-a15b-57ae45f169aa CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12818b4f-0a9f-41dc-8940-5604f7959ccd CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dcec613-4f30-4097-b981-f52062d82148 CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a9d22a-e78c-4651-a394-acb47597e62f CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66ac0473-72a1-4b1c-bb72-c4dd701db54c CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32b8fae-b797-4299-b7f6-541228472562 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c24b094f-5298-4849-a711-c0e8963e0b15 CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef468014-78f5-41bf-9ab2-abcea4bc7c24 CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f578568d-9f49-4cca-9423-bf7ca9d9b764 CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741fa414-448f-4897-8880-47aaaddb69d3 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9e9c1ae-bd0d-423b-ab1f-d81b5b48e451 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b5f601a-e7ea-45cb-ac46-1dcfb7b0ff97 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83a13ee1-0d77-4bd8-9580-a50b35fbea5c CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7b3af6-8910-4d41-9644-77e4074b66ce CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9cf74442-dfe4-4279-8cb1-73b4b3571ca5 CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11646371-dfd8-43d4-ab3a-5e9fdfed006e CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9025bff3-d7ab-4b6a-8c9f-7062cad3f8b6 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0cb774-f3d4-4fd3-8371-ede0241586a7 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25b3aac0-2218-499f-b61f-419ce61b493d CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ee00f0-0744-4019-a8c2-f8e36151d4b7 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e88850fd-3927-4235-a43b-53df859813f3 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a11e25b-3d95-4490-a1a0-64c3e0630242 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 813b5737-fa91-4b65-93cd-7df65fb49a56 CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b243d5-b465-431b-b5dc-cb769ed089e4 CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eea8d6e8-3634-45f0-a778-f4416123e5e6 CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce26e61-c179-4415-8797-c2ca4b52c410 CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e68a9a5-178e-4336-a3b8-f5673da14e37 CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcad7904-807a-4313-bcba-d1434a6ef5e9 CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50eec847-5009-44bd-a925-bcce93b600fa CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68834875-47c2-427c-88c6-863912131ea1 CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 761e2413-90e0-4677-b7ca-8beb5546ea89 CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b78a1c-8c01-48f2-a75f-dc1b0524e7b6 CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d00cf76d-e87b-48ce-b20f-fedd65da775e CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48492452-2f9f-4024-af1f-3b269a708bf3 CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db129041-23a9-42eb-b8d5-aec20118ed21 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e038008c-2f70-4195-a2b4-82626b2ad066 CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8748ea13-15f6-4e80-88ce-717cecdac0a6 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae3f9c1-0282-4ea4-a4d1-6669b46e16cf CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6c3f78e-7df8-4339-91a2-6ecbc78ed072 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2069fde9-3774-4e81-8d25-e8b8147628b7 CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 588a0119-f7e8-4457-a366-a514089a7f1a CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a974341b-c996-4edb-8251-1027f015709e CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cb1623a-cd3a-433f-af6b-69f70a76d59f CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29bbcfa-e9be-493a-b346-2fa77c5253c8 CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70cf4d33-88e4-48f0-bd3b-9f5dedacc928 CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b9b9a1-37e1-4ff5-b7ec-d64c26105baf CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fb1117e-ea08-465e-9bcd-d87b4e3ddafd CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26816d8-8c2f-47a6-9065-0acafe580206 CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c84ac42-6fe0-4799-8db9-ed50ccae907c CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffaf82ef-2080-4bf0-b2f8-33c6dcb3b6cc CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eec15657-b4da-4085-9902-b0a28d4d4f5b CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c6d410-d315-475f-b7af-d3206204184d CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7cd6e5d-785e-4da6-969f-7c229c235332 CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b91e93-d59f-4b5b-b20a-373fb3ad17df CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcc2f80b-03ac-4c6f-96b4-83539a3113aa CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56731adf-5959-4a45-bf08-03eea51a2f5d CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8aa2fbff-8f82-473b-86ee-6d2b3d8a9494 CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09012db-0485-45da-98fe-70dc7336def5 CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ecb3e60-cb0f-46fd-a702-f3de1adb99cd CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e3d4be-66d0-4ce0-a215-8e4919fdb93e CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae7bdf50-ad7f-4eed-8fe3-9d64d0e4ecd9 CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa63d14-312a-43d5-9d14-f8f4590b6404 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1835d072-ed75-453f-a74d-584635ff94ca CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b9e8ba-5b54-4db2-ac78-a580f0566774 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 938a4794-8317-4951-a400-3ace884ea0bb CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9334a6b-73f2-4a48-90e8-8a8606d9b347 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96b40d90-175d-46cf-9b22-f51f2cacf4b2 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c310a17-cf49-4752-9cf0-07ad24ab3aa5 CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2261fc0-ebb3-430d-875c-1fa2c0947fa3 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 491a3501-c6b1-4100-9ef4-2a22e447e93f CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29313e76-c14e-488e-a9f9-a82032e0da2c CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5745015-74c5-4a14-966a-f6121964e312 CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de1b4327-5997-4614-83f6-5a382558e928 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36edfc2-2f3e-4830-9d8f-1d5b445678a9 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36b43366-4fb3-475f-9832-7e67dfb39b4b CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2393369-2469-471b-83c7-e2c7f84430c1 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e76ad025-bb9b-4626-8355-3c7169e6ac0f CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c2f8b5-de2c-4831-86ba-514fe15ca5ce CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f44d8758-48c0-4d3a-a070-04705c7833d2 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b885f2ad-1eae-4a80-93dc-dbba06c52dc2 CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 503b3f91-074b-4508-8e1c-6e392067cfce CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9f6709-8b0e-4408-a19d-1ab95b941034 CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d10710f7-d294-4b5a-8c52-62959019cc88 CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101f0aa4-5e7f-405c-ae6d-9d34dd9b6070 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen becf07a8-4598-4b88-b5e3-d058169e3b44 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c11f57-4008-4a14-8e4d-6fcc9f6a9053 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b557fa81-9a6e-4df0-9ec2-ceb51256d16e CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe92461-1d79-4fe5-86ec-e8effbc0c695 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34437f2c-c18b-4ee6-8aa4-4ddc45a93941 CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c08e98-fd74-46da-b71f-e68ef6b559ac CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 997328c3-c7bb-4ec4-a23d-ab6d9b83719b CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b7acc0-70a6-476d-85e0-1c5645ae775e CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1799f806-53a0-42f8-8a97-6a81aa168a6b CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8466bfe-5b86-47e9-864e-55680430932d CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4e42326-416e-4909-b19d-9afb952f1137 CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb90396-d898-4a9b-9e29-803c51473ea1 CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fccc72f-2670-4f1b-ac2c-63192e01b141 CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395980a7-5074-43f7-bcbf-24e2d46e8cae CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34963b3d-654a-4cf9-bb8e-756d7372f331 CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aed6e3f-2152-4826-8d78-5311e5001a3c CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41accd29-d301-4870-8dfd-01e410167ae9 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042f963c-87d7-49dd-80f8-73ab35386257 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af3405a3-c9ac-4a8a-b94e-0272ae8c36d2 CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513cb644-8ad6-462c-b1ff-ac46642e46e8 CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37f9133e-3236-42cc-a81d-49ddd2405937 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf4a018-12c7-43f2-b539-5af23ef3fed3 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8439dbc9-e1d3-4c53-a2e1-279305f3d74b CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bda0d2-6bc1-4bf2-a77f-ddb974e25c59 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e162f6f-71e1-48b5-9eeb-d0574b1641da CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95100f7a-3540-4b00-971f-49521410a4bd CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55110251-28cc-4d03-8ccd-551027d3c464 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d450860-0ed4-494e-b3e3-ac8dcd9fd547 CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f01162a5-71ad-451a-9a42-34da7d064c12 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c085710-80d3-4c6e-a18e-cf8e3245859d CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb3204bc-168c-45f2-a65b-c9c50ccec254 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d43fd51-0cb9-4995-9c92-d4a341af546a CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1eaf968-1a80-4135-ab04-3a99cee9eae5 CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69599ba-0098-4368-a2e1-23736dbd47cb CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45989d15-9804-4036-9473-981f0cf48d70 CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8c7d95-9a95-4fe9-85f8-49bba37d2007 CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ecb4ef4-1a38-4a2f-be25-829117b4d887 CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d705785e-01d6-4a4e-a824-6962546d9c17 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c22b48f-df3d-424c-a645-dc5fc287664c CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e6464d1-19cd-48f4-b423-5b07cf829ffb CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c72dbf90-735f-4d00-bafa-a782850267ee CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe63aa9a-66a8-4246-9bb1-b9662b4907d5 CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb290e1c-f5c4-4f71-8683-471575b60498 CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e1e6fb-c628-485d-9d33-0832638237e9 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ac03c3-eeb4-4ae1-9f8a-c9ce5c073f0a CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c21634c-a3db-4cbc-b288-faf2dcd94548 CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26aedec3-2bc4-4456-a1e6-94d2232d71f9 CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cada245-721b-46d9-b350-c190b6d29467 CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ba9488e-ba4a-425e-bd4d-89541aec7a30 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0774c0c-7e1c-4821-83b8-046a92a91147 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ff8e064-bf53-4a5a-b7da-82f1cf49a5f2 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e3c8e4-82b3-490b-a756-863d2b36b10d CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e788300-aa3b-47f7-a903-233e35cb11fa CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab69799-726b-421a-bdb0-ef997a4091c6 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bea41d01-ed2b-45b0-9d1c-7c78af6cb011 CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen badabd03-9be8-42e0-93f1-5482ea10684b CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55cb6d30-a18a-486f-bafa-1f295e67afd4 CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f030655-c4f3-40a4-8b5c-6d0cb6322b8c CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a44a0672-13a5-4eba-b92f-e795e1134fdb CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e982b33-d345-47e7-9fb3-8c2b6c6a432a CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 236b6f9a-e378-4103-b87f-47b7012ea07d CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb63e1c-43aa-4dd0-b9b2-b5d1d4c593e2 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70e38516-7fd3-4f93-954b-24864a61f25c CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a71950-577a-4cf6-b878-cfacd91e3ec5 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c93425e-799e-4261-ae15-0cafb8cb583b CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56826ac2-b3d9-47c2-825a-41b5230b7eee CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9d5578a-8c3a-4436-871b-44898ef8e813 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a5c2e2-570c-4d41-a318-e90d7fed4dcd CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfb3597a-f86c-42ea-9af3-cc00f717c086 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7087470-3ea4-4701-b74d-703d64998980 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 714b53fb-54d5-4dc7-bf48-7302b1cd1122 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbc9922-3fc4-45e3-8f03-1c3363f02d1b CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb5084bb-3a90-4764-8a10-2a94141300b5 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c95cf7-05fe-4f28-9a58-c23e8cca1270 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a302656d-f278-45fa-a1a8-51691f13b24d CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcb4076-3553-45d5-9229-350757a91308 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c471dfd-076d-46ff-a23b-62729effb5f6 CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b41d630-641d-4921-b58c-6ace77d0f66a CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d13885f6-9b36-4b66-a8db-4ea54b841bd2 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21119453-af1c-471c-85da-c5ff5f66ac46 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29126d00-ddf2-4476-96c3-5f149f03771a CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5f8ab2-28ff-4dbb-a4ba-11fe0b2bd2ee CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed9f6c47-7dec-4e34-936e-b07672a0d655 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc0d0dc-4f7e-49e6-b5aa-c686351daae0 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33c9e7de-e7e4-4b90-a83b-c020620c840c CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea18accb-1588-46d8-bb0d-915517f2dbf9 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69d358a0-9fc0-4fc9-bac3-86f73f1347f6 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033825d5-7f9c-4580-ab96-4e4a9f18b662 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3962f43-eba6-4c00-9892-88db26e87ee1 CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7873aed-de79-4143-99a9-41d043215a72 CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d9178be-bcec-444a-b087-6d9d29f660e7 CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909887d6-480f-499e-a94b-6e4f5f78179e CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a06d66d-b824-4992-bd50-ad86d0ea534f CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ccc1be0-ba6a-460f-b80c-dc89a4ed867c CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9bfc5de-ef1a-4121-99df-62d3a8a6eb29 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcba3dd3-fbdf-4cb7-9abe-34ab7e3972c3 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1fdc4ab-76cf-4d69-8e21-2992082557eb CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf7901a-1562-4bfa-996d-912cd621d975 CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90c37644-1cf1-4fe2-8df2-b936ec0cbfdb CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b808e21c-5db8-4d5b-89fc-b547f7f30b9d CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 680161fb-1db9-4d4a-b727-a8885b92280e CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40cd31e-93a9-45e0-905d-ccece329a4cf CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e91abfce-acf6-43fc-8f14-533a3c7fb3fe CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0248fd97-1edc-43c2-b2d0-87f445267802 CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60786486-c4ea-4507-a9f2-b5d6394e1de4 CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0eb204-b256-4b28-8055-73f3ada80ec7 CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d1144ae-266b-4088-9f30-eb20cd0efd8b CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35f940c-f1b5-4e2b-a095-5a384ff9669b CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dccb6f22-b6ad-4094-ab85-68395c945327 CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d231e6a9-81dd-440f-a1c9-dfc586584506 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc7ee0ad-a0b1-481a-aa68-264c8da5f3a9 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14bbdc73-98d3-4500-ab03-850d2f3f0a1d CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55608148-67a1-457d-aa41-75158bc89843 CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd053000-be09-4e88-9dae-917d72781aaf CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f4ef77b-8232-491b-bfc8-0da9ce0fb6b8 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835d4151-aa18-41b5-a5ee-a5bfee8c35ad CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31e6d72f-0d38-4d7b-bd14-972c3e339365 CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f406cb21-38be-436e-a249-b8d1255db36f CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3efa13d5-7648-475c-ad4a-89719b2f6737 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0cfd4e-e43d-4616-b090-0e2201a220ba CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a6e3040-bdf1-4f7a-930e-711e21eaf91f CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f9a047-260e-41f7-9083-3dc42c0fa9d3 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6627eb9-fcab-4b5b-9e69-2c2105c02c56 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90b8f49-75c9-490d-bb49-53e27fe9f02b CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44755be8-d881-487d-aca8-b59bed8cf13f CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff0c05d-44b2-4736-b6ed-ad45a28fa7a5 CAID:CA2579916788 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 658a80d1-ead2-4b77-b004-85dfb0266b36 CAID:CA2579916788 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaca1ac1-bb66-46ca-8067-da6974611483 CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72a683dc-4f4c-419c-a294-ff2586aaed48 CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdd3dc7-af81-4edf-b24b-15b114f7bd1c CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c0e74e5-881a-4779-98e2-9b6d7174eae0 CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1781e7a0-812f-4ada-9660-8ca2b660db0d CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b0a924d-0bf4-4ccf-8ea3-8db122f07719 CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6de3b90-62d2-49ee-bc33-c654eef19fb5 CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37cf12dc-3ee8-4811-a9cb-1cd079c76bb3 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28fcbdfd-5af6-4a68-a66c-1f33f3dfe8af CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0464aa1b-d4e7-4e25-abc2-0985e74d8ad4 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f0df26-91b3-4e38-83d7-907a09811c25 CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0562c039-36c5-49b2-98ce-b17679190321 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a82ffe-4753-4c2d-859a-773f7a23c49b CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8f27a99-593e-4b68-93f0-38f98072e2cf CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4659a8af-847b-49f3-8610-ed98bda61c44 CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6400608-3e24-44a2-a00f-312db58d456c CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be05aa9-ffc7-4131-869c-1b2621e2ab83 CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03260b14-5ead-4629-8caf-a3e8fd486bcd CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7126ef-8dd4-480e-b005-918dd6a009ef CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b82d2e08-6736-429b-ade2-367251cab90a CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c812189f-fb76-416e-810b-7d6be38a34a8 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ef23cdd-0fd7-4857-82b0-2774520ae994 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0107febb-8c29-4af4-8504-e19b03b676a7 CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5de8bec1-771d-4409-afc8-83d76a1988e0 CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a98fe78-d913-40b5-905a-22dbcb135df4 CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbb2bb96-6d25-46fc-94c6-cec5bd6f06bb CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6ce488-6e39-4445-98e7-58563ec7b4b7 CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3265060-c14f-4a5c-9b35-1ce3896584bc CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8349df25-aff7-4c81-a54f-e999942497c6 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd1bd135-345d-478a-8d19-b9a59b9d75ac CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 375fd072-73ca-4e35-9cc4-40f8bd0381d9 CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21dc805b-5e73-4175-9418-a86356b63d2f CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9a6f0c-fb04-4c95-8ae9-0c46774521df CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3821a620-bfbd-4cbb-9681-98109c43ee0a CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c748b17-fe56-41a0-a00f-f22237020ec8 CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e788596-8877-4405-8804-cb186633a14a CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd6ecbc-4d7e-4951-bf0f-e0b4e1d13a34 CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bf54a3d-4605-4684-bdfc-2e7c9b948f38 CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b24774c-d322-4f08-adb5-22f1ecf83835 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fca45312-f7b7-4981-b0fb-0214c13b3b52 CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adc72c4-6255-410d-b5e2-5939748b463a CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 307659f6-007f-44ee-974f-89b4ac0e337e CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb9b992-2c93-4ccb-9afd-e8f2a97b720b CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 240ec6d5-67e1-41fd-bdb4-cd56240fdd1e CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a78ce1b-1c1c-4d39-9616-215f5318cbae CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53d44a81-f1c6-45db-8238-a60e9e18fbd6 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 389c1106-472f-4310-a3a5-e81e48c64670 CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e5de1ef-bea6-498c-a140-834796303b1f CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a10c8ea-039b-4d69-afbe-15d643847f3c CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21366c37-6c7a-4b2a-9b8b-af7d5778c4df CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f8b312-fa50-4d42-9634-ed6a82519b97 CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b66e416-fbde-479f-9b13-53aa031fe0d6 CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a2a331-f66f-4b8b-8d2d-86060b13f54c CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68cfa607-5bc0-4bb2-9c56-c2cb22e7971d CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53873723-d409-430f-86d2-db59114e5d47 CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05564dba-c522-498e-a60c-3c9b7328c4f2 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978f38dd-31b9-47e6-b056-3aa5d82a87a8 CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 875c72e3-7f89-4146-87d4-9ac1bc1c88b2 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39ac426-dc2d-4560-a481-4bdca2812cb4 CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9aa5c51-34a1-42e5-9f95-a3ad929347d7 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d08b28-408b-48d8-b7e6-21f058384140 CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0d8a3d-ecb6-45f8-bcbf-4c5c2369c3b4 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43247574-a6e2-4608-a63f-953bf04ec3ca CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83eb5926-2a19-4938-bb1d-854c94895107 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e651dd6f-211f-4a93-aac2-8d72edf93ceb CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34836bc0-7dca-43f1-ac5f-e9e89c87ba00 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e975f6-1e92-45dc-b5a1-5f98c5671186 CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b3a3671-8309-4f7d-b1a8-9f3bc80f3481 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52426f21-3015-4298-b4f7-2a8fc2d54dab CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f93b2bc9-cbfc-4aef-a287-efa95b3c7bc2 CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce243c6-6fc3-46d7-b43f-3423f1f088c2 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a4c6039-aa17-4f33-b8bc-78eb56370f90 CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504bcd1d-d00c-49ef-a5e8-b150613c8d9f CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f47d1d38-71a7-47db-8cec-50aa84847b9f CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b877f3f8-6361-4a2f-a54e-9ed0d764b844 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24c33e33-badb-49c9-bc2a-534a51f4f3e3 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3de243-0541-4cb8-bb71-604055b4c9cf CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f5bc0d8-6b28-4c12-9c1c-e3fd40b8290e CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f600bc-55cd-4d0a-935b-9f925729fce2 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75c096cc-78bb-4bc5-8d75-692df8c9ba92 CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb4bc3f-54bb-47cd-9624-31af51de83f1 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be077fea-99d5-41d6-976d-81798360ab47 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414f6464-08c8-4739-be2e-b3f115f11d2e CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 190ad5ff-779f-4b9f-93c3-20310df90d4a CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34757443-8a61-4f49-a09d-5d69a82817a1 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36879d75-b5c6-487e-85e0-949c11d568c1 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be24fa9c-6b9b-4aa9-a4d4-8d4c2fb68a1d CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c676bfa-7b28-48a7-a08c-da8f7850fac7 CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b5e850-cdb4-4cd9-b520-859d51756735 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42f48cbd-940a-4459-b392-ae6c1c5cea58 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc84178c-5e11-4840-8609-9ed53cd1be73 CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15ace7c6-2bf0-4e9f-89d8-98e8dd445976 CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0068307c-fd75-4fd9-8ab0-7477a89e7449 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cae442f-db30-4600-ae61-5de4e308a7da CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b5a8d4-0040-4abe-84f7-60df9c81b622 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e807094-a1ef-47b6-9a04-9654af4f1b8f CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc97e14e-c6da-47b0-ab31-7a82928dfc1c CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 231f6a7c-0572-4418-b5b4-c3e4bfac29dd CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9563690-ea21-48ed-b9c7-b6a9dcbd5417 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35ca557e-22f4-40a2-a9d6-e66bb1951544 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab05938c-6b88-4601-becb-a4e274fe40e5 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67459294-3b91-4d6a-b8c8-4960739b58f8 CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc30fa5-43f8-4aae-9a54-d94aabc66484 CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5961e5e8-4540-4374-85d9-9cf8d3fa5861 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b91771-be34-41a7-96bb-508272abe95c CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8cdea98-06a4-42c8-bbfd-15ddaaf85564 CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3fb552-fd51-467d-b76f-f201ee2a2976 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16944ad3-22e9-4092-94f0-faf00eff12df CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef847af-9a2c-4d10-a1fb-0d561094770d CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f89cffc-6830-4c4b-87e3-0e5893be2b11 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f393785b-e92e-4ae5-9e1c-562fc5c1de70 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d7f47c6-b47a-4f85-90dd-fbf66baa8cf4 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e86c12f-5bf0-4351-8eb1-62aa50861cf2 CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c99dcfaa-b002-4ce0-8849-fef1e2f85352 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9305b4b-f0df-46f7-a24c-b8542ecef727 CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc72b8d7-42e9-473f-b632-844dfc1cb563 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ee24a6-e708-45f7-99e6-cb5ea03d21f8 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a939a24a-8807-4d5d-b4af-980e0d527c47 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbdf2c1-1757-46ec-a846-77ac870661f4 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc21bd32-3008-4887-9da3-51673bce9709 CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97efd7cb-2d9f-4775-b192-3b7f9bbba15f CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b46a36f5-08e8-41e9-958b-bb4dab5c8934 CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1cea3ac-0bc0-4f46-9390-a606bd6dc985 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a24dcd0-d31d-4c49-b69d-15ce4b6026bc CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af0c60e-34e1-47de-8f7f-169f002a1fdb CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b2518f4-baf7-4305-bc66-73bcd775afc4 CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7586abc8-fe56-4adb-b22b-5d4b77cd4afe CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52c23e77-9ead-4e8a-b3a1-277a5ecb8e47 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a86e614-9510-474f-9710-384e5f5690bd CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9899a96-9967-47f7-ad2a-5e47b6d85e5e CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a10501d-6c37-4211-bca4-137459687e80 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9879fc83-e2f2-4940-ba17-db7a93217d30 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a510d14f-f523-4ba4-9211-660ee34254e8 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e961c8f8-c848-4a2e-83bf-0dae33cac315 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df357234-7621-42e9-9271-a40a2608ce0b CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9b81fb3-a1fa-4d9d-9680-be35e02189df CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7756cba6-dfc5-42e7-9bd5-04a16f3e6aff CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 999a2dd9-9bd1-46fc-820d-9bfef0daa716 CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1594e543-c748-4a83-a079-0d1cb92a7d4f CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2ff508a-cf1a-4d59-9751-c56f36670fb3 CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4a1159-7e88-4ed9-8848-40745c4b9d8b CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0d28b47-693b-41ea-84ac-a96ba00c799c CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bebebb4-8907-47f3-9966-aa340b9962b8 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2cdb330-074f-493a-9417-0a4891ff0ada CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1594046e-7729-4c6e-970c-5a36e986c600 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fffbdaa-5a03-49a2-a423-662379e37d00 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90d2e31-46d5-4522-b8f3-20928e49569d CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b05d49e-5f83-4355-b31e-29222c5c5e31 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52a83d7-2b87-4c00-875f-ab584cebcb7d CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e72a739e-8953-48c9-87c4-7ebe522f3284 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d29d01-3b43-423a-b0c2-0751c830cca5 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e94268e5-b241-4bbb-a87f-0ab57068507e CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d017dc39-0717-4ed4-8e92-493f1b8da2a3 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 515b8cdb-b96f-4733-aebe-2c53629ba9ae CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69ab98d-15f6-4f02-80d8-937965ce1580 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 698fa9ca-2155-4381-81d2-a0f27a237b2a CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4760ee6-e6f5-40ff-8c0d-0fec2fb44b52 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cbfe093-56cc-4f54-864c-74886367154e CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84066bc9-8dbb-4019-b75c-a5d2913d1e8a CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d070689-66ed-458a-ac8c-7228966d9f80 CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342346e4-2966-47f2-b51d-97055db672b2 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86e1a9d6-cf02-402b-afee-ac51c2635c8d CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf6102e-5d0a-4da7-a28e-bb854171ec0f CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75c76f45-46f5-4b74-8e3c-9ae8ad3520da CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff87f67-1b06-44c4-8ebc-f5ad3429d6fe CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1b2bb38-31ec-4969-b850-27e6055d387f CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8170b4c-3c65-4fbd-ab01-8878e5dae8a3 CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ea0bf34-fb30-410e-a7f7-5fab61aeab20 CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8aab85a-0af5-4b62-9888-16802970da58 CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d12d573-5f4c-49f5-8cf6-35bf43c41100 CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1305398-3056-49bf-9ecd-dc8803ed0e6b CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23e8aa79-613d-4760-89b7-7926a9283616 CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64582940-278c-4198-82ae-b385d04d828d CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f8f08f2-7804-4d3c-af44-4feacdd9f996 CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376b8738-5c6d-4d27-b0e0-26ecc062ede4 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ee409be-4ba3-498f-aa94-0b32a97df8cb CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d5994d-b8ae-46d8-ab9a-3f5df749db09 CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c37c058-7ba5-4e7d-b263-ca80befb7de3 CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8649d8e2-daec-4b0d-a5ea-a3270329642d CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c21703c5-1a74-49ba-8043-30cc0e6866cf CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708d26dd-d820-4115-b7e6-29bf451329e8 CAID:CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efeb0d69-c16a-40ca-8933-db1fb7fab6b2 CAID:CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f505093d-b01f-4315-9144-be02d88214d4 CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a67a9e1-4353-4516-b78f-308e548abf45 CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf77428-32b6-4ca7-af22-abfbe7b9c593 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91aae848-4514-4cc3-952c-7ecb51f4073c CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259fe301-bf18-4c28-bcdf-15b942bd4fc5 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb8be5b4-00d9-4c3a-8070-830139fefe7a CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120b9ad3-4aeb-4658-88b8-1bd038abfe20 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9182d262-72b3-4bc1-afcb-eeb8298d17f1 CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f38fc0-83b5-4c30-bf62-edf389166c31 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc222a2c-c277-483b-b50a-ec805dc64217 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4aee67-f4ce-40f1-894d-3c428106bbd5 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2e9ab06-b62e-44a1-adc3-328bc79860f3 CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ff4422-f621-489b-aa71-ef043ce99438 CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3602ae71-b0cf-409b-8aeb-bf9a28aeae87 CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0600af4-e85c-4822-a76a-de2af4e5a41d CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce4b51f4-655e-4e58-8873-8047ac695044 CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdd3763-46c9-4fd1-9a80-b275a836e9e9 CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d486bdb9-00d2-4eba-b659-ef472715e917 CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e12e35-34f0-4838-8350-6da86b853e0b CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c626729-a718-4cc9-8c7c-32041d325243 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6326599d-102a-4dfa-8818-1e05a46c12a4 CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54996213-8570-468c-ae3c-d2a6032a992d CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199e5eb9-eee2-4b2b-a095-9cc6d3295904 CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 479b3746-6f4f-46db-886d-ae1a142a4cbf CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f361f8-c035-4546-8eb8-3ec08ce9286a CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef32776c-c4a1-4a18-8700-8a1138ef9664 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f8cc70e-735a-4548-8c98-9247607c7d9c CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 762e35be-edd3-4490-9b8c-2b0d208ffd01 CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e887ac9d-c857-4f4c-a88b-24209bac33f3 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87474fa7-04c1-4ae8-b3de-bcd4c377d0cc CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b541642a-2f93-46f4-a79f-89ecdb8bf57a CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b2fb9b4-1cb6-417f-8d9f-3846505c770a CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad45903-c14a-4cd9-94ea-910367dbfa09 CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ccfd319-70a7-43ae-8020-34bc7485a638 CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7596a319-7382-4d59-a6fa-ce410b8236b7 CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06e07114-be3b-45b7-96b2-a703c6be7b6a CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d97336a-0c68-47f0-b502-e6352ceb00e2 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71721713-7cd3-4672-b278-c6e0967b8cac CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8393be44-273a-420b-8bd0-4d5d213175ce CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 342e7334-bc91-4ddf-acbc-8679574d27bd CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643580ff-f6ef-4ca8-aa16-687e696360a6 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73d9f75d-a2b5-462a-af90-41873ef4fdbc CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7c598a-fd44-4f98-b32b-8247e61554c9 CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1746484-053d-4b03-a955-01c6322ccbe0 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b71c78-acf9-4174-beff-33c6a438c9bb CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19e9ce11-3bea-4e71-8c33-fc29136b3597 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df5f866f-5662-4264-9895-32b9db1830d1 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08c7cdcb-f440-4c1b-8fd1-5dc7da1ad4d8 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52853a93-3615-4202-87b3-4f19478bf088 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 271f8c40-c590-4fbd-bd40-e62ec9acbc4b CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb9d8a0-b477-49de-b2a2-b2da33e2b911 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70accc34-5181-48c1-8a70-bc4ab2ced279 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ea5f71-b9db-4d1a-892b-2e26be83843a CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fef2a4a7-b1f4-40c8-87d8-7c797d0fd4ab CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6eb663-d1ba-4ef7-b1ab-c668100b2106 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60692cb4-f658-415a-b981-5e53f2a45a76 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49b7808-dee3-4c02-847a-353e51309318 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25250da7-aa4a-49a3-bc96-10de54dfe96a CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e4b602-33b0-452a-b658-73b83fac8614 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 773a4d7b-9e36-400f-9c00-8ead3a3d5da2 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6fc08f-da95-4479-9eaf-b528d9a65f21 CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4561f28-5768-462b-b802-dbcde2fa0f4a CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88dc4d6-3fb0-4cc3-ba7d-86eb2114a82e CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adf57e95-d416-42ea-9de2-80a8478c5f59 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2f2810-0468-4163-87bb-639531d02f2d CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4c6a4d7-120d-4b25-9e70-00867e299e00 CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61a311e-2bb1-4d2c-8305-1ec6e0bb557c CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6a35afa-7383-401f-809c-e2d624c3b0e4 CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97080e9-17ad-40f2-a845-012afde18e42 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff0214bd-b426-486f-a41d-9c1af7e35c75 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c02839-10c8-4910-bb67-a29f868ba30b CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85c2dcdf-33f8-4312-9260-9a6ccd740276 CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6ecac2-6849-4b9e-b6d6-70d02c144e46 CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 317ab98e-ed90-44bc-b4cf-0581ac717701 CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b801a6-a834-4162-95fc-714d970a2ba5 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7680d308-dcf5-4352-8a8f-bdd3830f38de CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9782ed5-7556-4713-a1ac-c69a291228c1 CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a5c2e1d-e283-4466-a712-24048b9311d3 CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0a63ee-54b3-4199-be6f-ac525ea63624 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02b7b658-1c86-42a9-89b9-787fe1424fe8 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcafddb-17ac-4242-9acf-f7e5639af127 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bae928af-2748-4981-8ce9-fa52d5178bc0 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef562790-1080-4433-b627-91a34a031e9a CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42a87577-c15e-48d8-94a1-04eb9f2cea66 CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66cb1e9-c556-4ee9-8b50-1d9b5fdd01ef CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f84ce24-4fdb-4cf3-a116-42798f3a85f7 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1854eebf-17ed-444f-b0b8-c8788465f61a CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2abbed21-b8b5-4c59-82b9-c099e64aa2b6 CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed851cd-5c7d-4a65-983f-c0894acd1d23 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac115286-9588-48e6-a18a-617b4ed890b2 CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30ee1b2-8837-4074-9e4d-b20d602b4fe4 CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c656a012-5df9-4118-a592-8544a1120ac5 CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace2305b-b5f8-4abd-bf7a-3a8dc4dd00ba CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdba747d-9829-437a-b014-37561377cf18 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee8b60b-17e7-40d6-a0c7-f62dbe6d14d6 CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff0a1da1-ae9f-4def-941e-d5e128d4c406 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d142e1dc-a541-415c-93ce-afc8f14a244a CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a05872a-c26b-44a3-a5fe-867b5810790d CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90dcb1ed-1ca1-4843-b0b3-1d6b5ab4a350 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 072a3e46-6b0c-42db-9d33-19126ff711be CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc2cdb9-2064-4663-9590-604901696f7b CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58bf64b0-209c-4733-9d52-4a72bf86d99a CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159537b1-7753-4e5a-a259-e6ec8b32afe8 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30e288a4-460f-449c-84a6-d5e9225a18e9 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1b1762-d033-46b8-8565-dfb71a373e33 CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71ee02aa-5730-4528-9ac9-5bfb2074b5f7 CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66d5ada-0af0-4fb1-900b-e990ba722d74 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 519c4050-c376-45e8-8471-72967e018461 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85cc4fd1-5936-445f-8d34-fe463c026ef3 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf1fc5d3-f8ee-49b6-93ec-a792c4cff764 CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8c1013-55dd-46b8-983b-c745f9cc37ab CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d926bc1-0df4-4f30-bc67-7d1a5d277296 CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4917bc-5e49-4572-8d38-029b7fef311a CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18f2c758-db2f-4df9-b9b5-71c869d4ec36 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f4b876-8363-41c4-83f0-8dddf6f4870e CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 170bed63-ad52-41aa-9cd9-324577d3da34 CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a1162e-f2f4-4ea5-9616-56a347f6e39b CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0959cbb7-84ba-4303-ba1b-2a36c70fe234 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbaca6f-044e-4109-9be1-81f29e690e64 CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 351d9830-52f9-4f3b-8e87-311e8c1d789a CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a548c9-6907-4187-a209-4bf2525e5b8e CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b87042fa-affd-48c0-820a-041988e18c92 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf67fef9-70c2-496e-b3d6-219284c6c4cb CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af101ab1-ec6e-4be1-9753-bdd4c9b1ae26 CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc308584-7114-4455-905e-e6ad2f5d9923 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e98e62d-98cb-422a-ba03-038579a22c8d CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d21bea-d037-4795-8cfe-f081170e571e CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cf62d4f-a073-4bf4-93cb-52b57647db5a CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72c3474-d2bd-4424-907f-b422bd5a0d5b CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1e4d81d-41ae-4474-ac73-3fdb77bc4892 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e4f44a-a24e-4320-a361-189dcff922cb CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fcc1631-6071-4152-81e9-d6cec01c1934 CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187eddb1-30b8-40eb-a36b-04ebbf0923c3 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76c79b4f-a199-4c46-b9c2-d157ef801ce8 CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ceaa6c-c30a-4200-991b-8e52b6596a58 CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77db7b73-10ca-4a8f-b7db-af0361acb3eb CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1324a76c-ba3f-4df9-a7e7-90b7f2d78d4d CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b90617da-3e07-4af3-a856-881908630f57 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df6f6f6-f493-4768-8584-590c7513bcaf CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c40b6ea-e949-4d78-acaf-bd5ef9fd5c2c CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6bf9b22-082d-4e7e-a77d-dad8d20a9d17 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e85087c6-50ff-45ba-8310-693c9a1ca1eb CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0bf6ab-5419-4e22-a6a0-6d19ec6dcdba CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08c7bc54-513b-4b28-856a-81ff7297096b CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6725d6f9-d8e6-4200-8fd3-750a77b2e9a2 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef3a43f1-1561-4434-bc91-0cf2bb01862a CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa03e76-4c04-4a3c-8da3-2e180369669a CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d8c464b-86c9-46ef-b4ba-56851542c2b5 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99786ae-5e17-49c5-93b2-360553363352 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b22992e2-783d-4c32-a90c-3ab53611da4d CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cff165-1573-41cc-80ed-4119941d9617 CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc6e1079-0225-4cb8-8c56-f946efc18aa8 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24af954-9622-479e-bd1f-3154e05aadb2 CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bdf448c-7155-4b14-81d9-3066703b8658 CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331df25a-08ac-4251-ac02-a28de0769a6d CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58b9551d-134f-4130-9821-2bccc97a5106 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebdcea02-0e97-4a31-aaba-ceae9a5d8e9d CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08e52758-44c2-4d08-a821-5cd87d60c7d7 CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13638954-5fc2-458d-91f5-242b15f9c061 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41adf487-c32a-4ed7-a991-4980c66db6ca CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbaae518-6d79-430f-9acb-a1e749dadb85 CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f55d92b-6d63-41ed-97fd-e2f2abad723c CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8938fe-516d-4146-a92f-a4dd4745eb6f CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30cb6321-9d65-4b76-9f6d-daf057c4ac2e CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13280972-6f91-4fd3-806d-b6e346bcacc8 CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a1c5bdc-1a90-4034-8e57-2466d4080dc1 CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7924ab-c33e-4cad-9a66-a896967b15ec CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e6953d7-57e4-4853-8d02-b8dd37b9239b CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7ef0f2-44b9-438b-864c-2a1223e79217 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a813ca0b-b521-426f-8871-0b533bf41c88 CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f708d1-bcff-4296-aea2-9e94f73e4615 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c01583d4-fb2e-42a8-b930-044a555bf8a2 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610e101b-93ea-4844-92b4-9cbbaf72f798 CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dd1cbe7-ec70-4c6e-a8b8-9f3b2554ea66 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c59d65c-4080-4e42-bf44-da456610610e CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b741641d-69c6-4e42-8083-a2ee0d1810b8 CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ac3beb-c82a-4d62-89ef-3ef2a14e23e6 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29baa7f6-823e-48c8-be50-2874088db585 CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf7729b-02a0-41d0-b384-3f6f1396d390 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a423d889-999b-4706-889b-bb2d561111b5 CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 128b1c56-2836-4959-afb4-967b2f813a9e CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d834237-e3d7-4b03-938b-ca86163f6ff3 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d49c65c-101d-4172-97de-57b78e94a32e CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b262e99-ae19-4686-b284-233bdf5cb86a CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db58549a-5333-4c85-8516-34b3a503c85b CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd1dd114-26a1-4bb3-8fc9-9acf87f4b5fb CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bdb047a-ec94-49f7-9a8b-5f0fec277d7b CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 846b6731-749f-4f1d-b3c2-37d945889cc8 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9b6d0b-0476-42a4-a749-f0affb970683 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1024a05d-18e0-4df9-b859-f23ef1e59187 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d788ee-6861-4a39-8884-0546bf65902e CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1392d5d9-fd02-4a3d-bb7d-9b59846c4374 CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271f47f2-c15b-4cbf-b41d-c6dded71afce CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1f3e6cc-7737-47bf-842e-9052e77dce4d CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308ef30a-2ee4-4404-81e0-a5106787d213 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e693120-3e16-43ef-ac5d-f3f1ba65bfd9 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee351c39-5ff0-4ca7-abe3-21f9b6440fd2 CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 108bc08b-3dbe-43f2-84bf-54d4836753ab CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83734c9c-b453-4e1b-9874-c3e359bc5d1a CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c608b92-4c5b-41c3-ab3b-38d510acd605 CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c5c69c-d45a-4cfe-baf9-53f8028f2628 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5109223-1a50-4fe5-87e6-4e40590cd71b CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aaea32d-04cb-4841-8856-5038928d4404 CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03161f11-134e-49c1-93df-71cd73133c14 CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4d12d2-88a7-40a4-9ca9-73b06252b48b CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5a623fd-1816-4784-942c-c6e56e3f329b CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1be59f-20c6-4cc9-a61d-94bcd8ac763c CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bcf5a03-1f92-4ab1-a727-512574c78998 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aba5106-c7ef-4ec6-9313-eea2001121ae CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cac773b9-e1a5-41e2-8e01-71ab4c192098 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe2a811-05a2-416a-bd69-ff32a7195ab3 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eedad6e-b7a7-4a39-b2aa-6b6992d21255 CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1c15d6-0e9d-4478-8c36-050eed6c5b46 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69b138fd-e94b-4b29-9941-7a97484d61dc CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2240ffd3-019a-429d-9ac1-0d3b42eca87b CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b694b82e-7718-4aa1-928b-f2e0513aece7 CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c195ad-1139-4f57-90ae-ae2ecaf8126f CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4296799b-aa8c-437d-98eb-503be1a4c79c CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb33da7-096e-4e8b-925f-e39ca20c8fb5 CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2658576-a43c-4fa7-9e69-03a8523be0c2 CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bffc81e-a570-4680-bb23-bb400e239a7f CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba52a472-b026-4021-b042-00550b3d4900 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2fd7369-3cf1-4f16-8092-ada8bbc0fa1c CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f22b01f-6681-4885-9021-2306cc063414 CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffffe9da-5fc0-4edc-86ee-1dead4bab4b7 CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d8482d2-4f9a-458b-8a36-a7122f21cc3c CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e466ef-909b-4223-b391-6378e21397b1 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccf99d43-2014-4ec9-ae7a-81273f2d180d CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb37d62-77cb-44e6-8212-f8785aa288f7 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 008e6111-6670-4e20-b151-fd2b2ea5e29c CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b2553b-41f4-4a38-823b-87327d07d303 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a2adaf5-33b3-42c3-b983-5a44f746691d CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4e385e-36b5-4568-ae6c-0d2b3443e0be CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74631730-e477-4cce-a024-f5c6445c8e9a CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f95139-9a79-499c-8d24-9c0bf87d350a CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7eb1ffff-10f3-4c32-a7f9-78358319f7b7 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da62d4a-8614-450e-862a-518093c7da79 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7c96428-3e80-4fc3-9fc8-3e278106c0dc CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785e14ee-7fcf-4c2e-a63d-b185e2e27ac6 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ffeabe6-4fdf-40f7-a3da-6cb7845bf955 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5b14f8-e739-4d2d-a65d-b429469a205f CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22711f9b-abab-4c9e-b284-1379c1e838f7 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec2ce8ae-94da-48bd-b228-0ac0c0aa07dd CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e963ede1-e6ac-40d0-899e-dc51bccb4942 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94843e72-3963-4e5e-9615-8924d36365c1 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c2c1a1e-27f2-4156-9f1a-36b5d163fa14 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8759201c-01d1-4e43-b0d7-37fa239744fa CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a63f9739-95c4-4847-afe7-bdec4365e2ca CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30cf048-44a2-4352-8e42-a11a258e0404 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebdcfef1-930a-40c4-9721-59e3fad86e7b CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86dd6353-3666-4bdf-8990-9cca6ed8490f CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5982d699-caba-4e9a-bbfa-9428051b4283 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95d95cf-0dab-4836-9d9b-cad037eee484 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aef4ff76-8775-40d9-8223-cdcaa8fd11b4 CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e229fe81-1b38-40a1-ade2-659591dbe028 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4764cfac-8255-4cd2-9e3c-627f778043cc CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8156a4-8693-4acf-b921-b049786d6978 CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a8ba172-8105-4059-b76d-037aae63fd25 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557f1e77-a12d-4c47-ad19-b6f07dc67c08 CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95599210-24b8-42c7-b8ff-1c89a16c2b0f CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcf3fbb-4036-4e84-8752-57f886452989 CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9300131d-1d8a-421b-bae5-12722558921f CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b73dad-6022-4bf9-9690-169534e07be1 CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1f34f7e-994f-43e0-bbd6-69da4bda6e00 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca334b4c-280e-4a16-9328-497c8e54fbf9 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1aa24bc-56f5-4852-84e2-52fc4be15409 CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92cacdd7-94af-4503-9f4b-049b692545a9 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 368fa3a6-5457-4f4d-a1fa-ba0ab7c8c83a CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f2d751-3efd-432f-9a7f-eee82b1f47cc CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc93b982-5772-4ece-b27b-834af2dab727 CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c299dbd-611f-4ca3-8ebf-02b231d9b63f CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38b2a7cc-efae-4cd1-a70f-a50b7d51acd1 CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6aa40be-967f-4dc1-9b1c-3ab261ac9523 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd04107a-4837-4ab3-aa64-10658bd9684e CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ccc38b-9a4f-45bd-8479-261e3bb5df9d CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03cc9467-7d7e-4b71-8b89-c64759f8102b CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ddd079-c9fd-4be3-8daa-0f7844286685 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8af710f5-6ac3-4eae-8e28-0a9a8522e2f4 CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2287606a-5fc0-46d0-8ae3-61416884778b CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67d8f550-4e4d-4c7d-b9a8-4d19b3d5ee00 CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be769df4-aec3-46cf-9f71-6aa932eb8558 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df3228ce-27b4-4f9c-922c-973326c2c0a9 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14acf7bd-d9ec-43e9-af21-c52d499c5a6f CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c48fe85-7515-4eda-be81-0a90cd68019d CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0fa18e-7358-4303-ad35-63c803847456 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6166c940-ad2c-4eaa-95f8-26326980306d CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9f3311-684f-4e57-8789-558c7f73f053 CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d02ac291-411b-4cef-912e-92565d91eb95 CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe1d9de-30ad-4e74-9fd8-180078db3140 CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c401d0be-6c33-49f2-8560-2b6e9257aa2e CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8578d35d-1e0a-4736-a40e-39990b6bab42 CAID:CA2582131064 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51079a0a-9876-4d40-a76e-edadf9cfd984 CAID:CA2582131064 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8a8ffd-c896-4867-9074-5a349da27ac9 CAID:CA415077486 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df9bdae1-6dc6-4a13-9be1-7763e1451386 CAID:CA415077486 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1161a8ae-59c7-4298-a95e-850dc3ada015 CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8256c16-5e92-4424-be31-7883c55cc00e CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98d2e94-d441-4f4a-be21-0fa7c8ee4ee6 CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 922c7c03-5c7c-436a-9c83-7eb2a0023b38 CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8642dff6-3baa-4585-8b29-9423ba8ac1b7 CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94fc4984-b6db-4cd1-9f3b-34f18fc6f968 CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b69b01c-59f8-4287-a319-4b912b4547b0 CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b9b3a7c-c15e-42c1-a431-5b1f93dee25a CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085585c0-5706-4f52-9cac-4134abcb8a6a CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08c401a3-76e9-4641-ada6-c3af66ee7449 CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9905353d-6725-47f2-8b6f-500f36b12886 CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43ca7a03-8b5a-49b5-abac-319e1a21a3e5 CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619055c3-3a08-4946-979f-1ee294931db1 CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb65ef3e-97ec-4dd3-9790-ec9f0a96b52d CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d93f221-c380-4ba7-bf71-8ceb768d8f17 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a940914-daf1-4d9c-908c-88c65df507e1 CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99fb2bb8-579e-4884-9d32-376751800ae9 CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d95160f-d767-4bab-9492-6177bb4777d1 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa92e31-b113-46dd-b82f-a98b8bfa8175 CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c4791f1-7bc0-4ead-bcc8-cee7dc001aea CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6bef32-e6c9-4843-beb2-f6187c0ad591 CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be014ce7-6df8-4525-9d58-b73027770d5a CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcab529-a2db-4b89-a98b-52733ec6c964 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eec1512-2896-4fd0-b77c-4df68eb040eb CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c755994b-149e-4ea7-adaf-11a1e6d9bf8d CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a14df020-c971-4d87-929b-abee63a88984 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f93e1b-57a7-497a-8d02-4b76d2aea7fc CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 150efad1-309b-4f0f-9ce4-020a8d6aaf1d CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8e586d-3ec1-4574-b709-cd84e3dfd11b CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fe50af9-a1af-421d-b184-f51134ba5e9c CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b314edf-0800-4267-954d-5691ada297a2 CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb4c5a03-87cd-4162-9799-033bae421b09 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30181d75-eee8-4c46-8588-44a4859510eb CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a05d3d1-e435-4a4a-9fa3-a7b92a22d601 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c44a4f-007d-473c-a329-4558d1b6eac6 CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0e63666-8617-4594-99c5-ff5e4de4303a CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03c6f5e-a818-4206-bed9-ce30043c974e CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69eca556-03de-4d41-9ccf-27d58eab7d5f CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19ff149-50fa-4c7f-b6a2-b6b2872702db CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffbce16c-0a88-4328-b170-3b520c8bfbe2 CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0ab00a-6e01-4d2b-be66-f8cc817bba4e CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95c6591b-04f6-4c13-b7da-3a8e9c0062f1 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa70fed7-a5e3-448e-91fd-7f5eff33fd36 CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b328e80-004a-4323-8def-72c7921b4a7d CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451efe0e-e19d-4ca5-be10-397f48a075b1 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b9d8f28-10e5-47f6-8cbc-d8b8d030e4cd CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6047073-08dd-4c0a-a9b5-65c1be2231d4 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07fa590f-6fa1-49de-9234-5e3b96b1a846 CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c25ad1-021e-475a-a4c2-94c6196288c5 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 086f9366-6d98-4a00-84a9-e0e72a44fc7d CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3e388c-01de-4854-8a69-b7835ba380aa CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1d74526-60b9-4d0c-91e9-3a634438e6d2 CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486522bd-3536-4370-818f-928f9b9977f0 CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a96134a9-432d-4068-96ab-4a6ea04cf999 CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e84c04-d1d5-401f-95d5-eece8a989d8b CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d53dd254-59a0-42c4-a1ad-702b5d08695e CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeaa60d-bc65-4d7c-a1e4-1f347001afd1 CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2850d7f0-f1f5-4eb1-89be-5175e5acc8f1 CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391e1ea9-2a1a-4163-bdc5-8f2c4e8b5d6d CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7b31aac-5ce6-4592-ad2c-b7ac05a8a4de CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9daffd8-2deb-48ce-a4dd-357631606e42 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d70f817-60ea-42f6-a0bb-7296cecda40a CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad5c046-a2b1-4b08-82a4-a4addfa9584e CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35764223-9a5c-4554-bc88-0274cac09bb5 CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac39ccdc-5755-426d-af57-aea25a12f036 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 501f64f5-d42d-495e-9a21-38270a3a3f61 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d022c5b7-aac7-4d1c-91dc-a9b09e614718 CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fd9bd4e-f744-491b-aa55-70dffb3006ad CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9efa03d-e7bd-4fc6-9f37-39b3f1a93aa8 CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f459e8fd-2124-453e-bdac-04ac6461570c CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb0942f-b505-4850-9527-9a4958482925 CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b98959c3-87de-412d-84b8-d76e8b317855 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e388a0d-0ec2-4643-904c-2e2514e2e7b5 CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 227a6d33-4ee9-42a3-b400-4f684a98e531 CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53666e25-d477-4a39-b058-225f985a59e3 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aee1c600-2058-44b0-8322-b94b1c835524 CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1dfa3a6-c5e7-40c9-8428-89aa0438c47e CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41a3bed5-2bd1-4dca-a38a-1415b7584547 CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf650a8-193b-45f9-adb3-ff077b1a9114 CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc03ce16-7b8f-41e4-9370-b56e27c93608 CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e311b1dc-5cac-4768-bc29-94c3415e5b03 CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e813267b-0292-49da-bace-44c807cda1a4 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc29f03-129f-436d-a289-8ad8949f3fda CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83aceb28-3071-4cf9-95c9-99c8432fd5c8 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca69f807-9464-44b5-884b-7ef118bd16f7 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a8163d5-0f35-4763-90ce-24c5ae96e2b9 CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e54eb9-563c-4e60-a6f6-99ba6d32c53b CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d83301fc-196c-4799-8ad5-0dd28edf14ac CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8740a8a-6a01-4cdc-bd91-31e360543400 CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46a4e6da-51c3-4174-abf3-f120f0a74b00 CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6938bebb-7337-4a0b-9a21-167c22c0fcab CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 936f8cf7-03f1-46b4-9cd8-82a7d99bd96e CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0cb94a-27ca-419f-8ab0-9f1686b47734 CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d4c9cc8-9021-4116-a65d-4da83a4704e4 CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9607281-825b-4dfc-a1b5-10a586fc2fc2 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e85ec75-b348-4b69-8d4e-274a17200c57 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381116bf-ef5e-452e-b976-d18fa9c0f7d6 CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 368a2c43-973d-4742-9ebf-93eae818ae5f CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9c608b-caa0-4636-847a-5ea899f4da0d CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f8ba613-424f-4067-bd96-02825091f681 CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cafdbc-29fd-400a-94d4-47f341965e5f CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d99d20f-5ce2-4a94-97cf-af7bf48393fa CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0b6e01-bf9f-46f7-b053-e2e78c0ead0d CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76a7d2b1-ff21-4ec3-b1cc-fce9cccf770f CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1b2633-180f-43d2-84d7-55775582f7ff CAID:CA10549369 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed853b90-c5a9-494b-8dc7-a8e333422f8f CAID:CA10549369 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebea7ce3-a835-4c16-b0f9-3e3b223f0fea CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d04ac1f-6fcc-408f-8630-9c653620c004 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8682ab-d786-47aa-b70d-a9da2ab2bc99 CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2106335-5321-4f5c-a301-af6d92fe6fa6 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1adad1-1ec2-4428-82f6-a154cdc84c79 CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b179b685-08e5-450c-9a34-43acd4041b73 CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7ab0e1-8280-46e0-a6ab-94677d767f2d CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57f698f8-f243-4d70-ab32-934538bb2860 CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9673a466-f7c8-4309-911e-d72266109a9b CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e451dc3a-b71a-4722-9ea6-7d81138ece63 CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb008a21-0753-4fb1-a124-b2dcdefdc9e0 CAID:CA2582119824 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b0f2511-e2f9-4a23-8eb1-7d8690b99c1b CAID:CA2582119824 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d866f9-3093-4684-b063-543030479a30 CAID:CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 625db4ff-4532-4a6b-8819-dc110991b59b CAID:CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf42ce0-1aed-4fc0-9a97-1890a4dc1af6 CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79be20c4-4b0c-4953-8e60-11be14bc83c3 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fc316a-cba9-4706-bafa-3c952e43efb6 CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce40bdd5-7990-483e-a8e1-013987bb31e3 CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4219cfc7-046b-4902-8ba2-0af6aa7604d3 CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79abb46f-68f0-4629-82a2-74e8bc78b4a4 CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f614403f-d346-4564-b88b-6825defe8dd2 CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b061181-abbc-447f-982f-d62b45e6a9aa CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d85659-3427-477c-b4ce-fbd029076607 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6daca49e-390c-455b-88e3-164d96d211fc CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438061a9-79b0-4ded-852d-31d33e04997b CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eafca8c-1a2a-4a82-848a-d21de280960d CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e98d50-a387-42c8-8a22-369d1842117e CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c817583-002f-4d0f-a66a-c5d5f5f2df82 CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3629b090-367e-4238-b952-95ca3068fe54 CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a50a80c-c264-4b66-8451-c67cdf304cdd CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd04ecf-a83b-4e60-84b3-51e08a50b2ad CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1349da85-d76a-4e63-b84a-bc663d37e5e9 CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c122cc7-756b-4687-92dd-d090439b4865 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35d59665-958c-4e57-bfa1-c2bd4aa1d5f4 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15961c9-72c3-4c5f-a7d7-87ec1e578bc8 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39fea11a-c74d-4c38-9813-bad82bda8f92 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dc22b2-0749-4c1b-916d-f6cf4c4599f8 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b3ad41b-8c40-40de-9791-7f4f90f0e517 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3537b028-f2b4-434a-8b64-9b5d42697a44 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb27ec38-af8e-4684-91ce-4d95376b56f7 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55770d3-543b-4f2f-b640-28308885e6ea CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f73bc1a1-7b5b-445d-9faf-6b0f10f201a2 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77bd16d-e949-4a20-9552-fd51e8886d59 CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ade6c246-3fef-4cc6-938c-0f487c30cd42 CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9708043a-0123-4653-ae61-e04e94606cbf CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49b61865-d5ad-4438-a4f3-2d0e73d7e582 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d3c012-f3e9-4159-8554-5959d5277f31 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f182261-c537-4063-88c9-68addcd1750f CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af57f8e-0f07-4954-99bc-d1b1021e2e77 CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b63686be-3259-4b09-9b85-7aacc392142d CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10445826-b606-46ec-abf7-268e655477a3 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07c81190-b8e8-417d-b523-83fa62da6967 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c293c4b0-aeef-43b4-a565-a839e4e6901d CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17525722-dda1-4e2a-871e-dbc5ec9e2499 CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63289ec-ab17-424d-a585-f24e0dfcc361 CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f7fb4d7-adff-4959-a554-982664ca6649 CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f1528a-6b84-4732-9bc9-b97d3c4cf6c5 CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f54c5cc1-0b76-401a-bf96-9d2d5b0b510d CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc2428c-a474-4fc1-b39c-90507284267a CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f48c019c-0b76-41a2-8bce-2f613d702c37 CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be610c94-5efb-4157-aff0-ddd37ee6f609 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47a2a40b-8102-46c8-bb7c-d9be570aa449 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4bf4f6-90f2-4cc5-b82b-52f09e0081c7 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e234ca49-b891-4812-8d5b-1c0261fd47b9 CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67881a46-5270-4984-ac39-4b73b78392e0 CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff8596c8-6d74-40c7-882e-3ed215280c53 CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03414027-c8e2-4736-9ce4-b7f68beff080 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91ab92fc-aa90-4f96-a949-d85682b4bb60 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31707b6b-1eb6-4808-b441-c2e4c45c64b6 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e024a65-cf73-4942-90dd-20761732ebcd CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2561fa7b-ea30-4d2b-b12e-3a560b040682 CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbadc540-0837-4ad1-b973-76ce2d1b1975 CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7da3b4-7403-47ee-bb9d-04629309feda CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39296fa3-6c47-431e-a1ac-ae64283edcc7 CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940f4ebc-dfe5-4743-8024-217ed88c64b3 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 592160d3-4a09-48ab-9316-6ddcfa5aad36 CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ecb228-c9fd-4126-a37c-52762a1275e7 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19069f5c-d99f-42e7-b817-25e6077fe9d0 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b888ae69-3665-4566-b469-0413271c9866 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d67c8b7b-9e8d-4705-a70d-0587156209fd CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d7c051-7c1b-4f9d-a0d9-eca191c09d92 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3214bd05-3340-4ea5-89c1-cb25cf153ad7 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d868768c-0d0a-4caf-91eb-43745b3b6e4a CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 229ea023-17e8-46d9-89d2-104e5f946f50 CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977f16ef-5f4d-4eb7-8e93-a362f49a33b4 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82dc32d8-979f-4fb1-9b31-7c9443beeb8e CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b0cbaa-397b-402e-baa5-d2694fca2dd5 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bef64d03-6d68-4c91-9bee-2b409c98c375 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0820a0e-b9d7-470a-977d-87f36c7f9a9c CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4be8fd7-fbb4-4a5e-b56d-7b7f021a0564 CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db079337-132a-482c-9879-2ef77b0a36cd CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 507d295a-d45a-4996-85c6-6ccfb2e39fa5 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aae9e99-4621-4933-86b7-7ffdb3cfe218 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e68ff5b-f56f-4dcd-a990-77022e19e2d7 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476f13bc-9706-47ee-b966-6937dca1d1c9 CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4af6b45f-0e5e-4d20-b22c-bab2cbdb05f4 CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83bb4df-e7e5-4492-9835-47265afe7c80 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc3a2dca-06bd-462d-9afa-1afb5a84c684 CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35588d5-dcc5-42c6-87b4-6c1b83f8f0b7 CAID:CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e903535a-94ba-4c51-96ad-4eceb78daa79 CAID:CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae7f593-f70f-4085-ba41-38a9f7f1a757 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13e9cfad-23aa-4755-9643-c0374627f68b CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3623951-d930-4a7e-b41d-49039dbad5bd CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3774eee8-fb91-4442-974a-258f779f0b6b CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d42101d-8497-4717-9df4-8c01e9a6f084 CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff30e17-e9f3-4dec-b7cc-216653071115 CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7aa22e5-f781-4061-8f4d-a75f265f780e CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60ae38f9-ea7a-4e2c-9e21-68ce3eae2282 CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67715e8-c918-43d2-a340-be5c498ba0fc CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91726346-42c9-466e-8573-6c2a4972f34b CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28162fa5-4e1d-4490-9d66-854f5b90a8e8 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c378ce-f2aa-4c12-9c2b-5e91a784bf47 CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959b75b5-420f-486b-a16e-57ba15e43435 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1331fa3e-e139-47be-8da3-3671cabae76e CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aeb3f9b-3ce9-48f5-938f-98d67f1913fc CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f21e9d85-905c-42d8-a293-c8a5cc8aab7b CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b2d589-2c0d-410a-8c0e-6a3fe51d3e15 CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b308e67-af96-4558-bbd7-f3ad64b1adc2 CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872322ec-bba3-41b0-aeb9-20194c2196b6 CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9babdbf-e2d4-4ec6-878a-d6e571530678 CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69806ca0-1e2c-45a1-b819-b7b101d106ae CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e440ad84-ef5b-4f41-b43e-4743918f8de9 CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86fd869-eac4-4739-8c97-fd3bc926daeb CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4d7786c-3dec-4213-97bf-6d6df64eb8f0 CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac71877-0ce3-43a7-b07a-8fa560640a44 CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b37d682-63b1-4638-8796-7ddb976f39eb CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddba335-45c4-4ab3-9959-82e764d9aaca CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15d7cc03-b68c-49fd-83aa-97ab3f7bade5 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beae5a84-2a87-473e-a4d6-4ffa9a9bdbe6 CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b30e7f2-f4c5-438e-a99b-7911397d3a2f CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d5758d-bc25-450b-bc59-e1bdfd0b383b CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aa6b8a6-4819-478a-ad17-d19b9e65e6be CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70847a8a-18db-4293-9d48-52c66f284300 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ce769d9-c924-41c0-bb07-c376cc1fc77d CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f3df1e-4e0a-4b1c-a4a0-44e8953351df CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 823099a7-9d64-4d45-bb83-530006a9f2b2 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f4515b-4999-49b8-9f68-3e9abe337596 CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa861c2e-7c75-427d-889e-7b8d3b549d4e CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2dcc1f-6ed7-456d-b740-c5ddde05c2bf CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ca900b2-d611-4478-a560-a5c408c47c9e CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81418af-caec-495a-9a96-3a07528d178e CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b3cf664-0f8b-4686-8dd3-5c4ae37599ad CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51fe3ccd-d797-48cd-a843-d768459759ce CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62391dcc-aad9-46ad-b223-499445c585c2 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0526f79-9fd1-468b-865e-80ea4b79c566 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aabaa056-648e-4f39-9781-9df5c274e1be CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5804a9-01d2-4f28-b7cd-b0031858d392 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56fa2950-7f6d-4880-b5fb-f475e8fb897a CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5f1e3f-a64a-49d7-bcca-04d5b5a3962d CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5816bc1b-1796-4d60-9540-c7a6cd594267 CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534ae34e-ef6b-4689-bdcc-878e5a00582c CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0638939-94c3-4e1b-8d3a-f26d2f13f5a3 CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a905df-d196-4ff8-92d0-1ab282461a71 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d244e919-dded-4a52-b29f-4aec9a71da36 CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c706cc30-4358-4f36-85ff-0d7952317b30 CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57609455-51c9-404e-9d7f-b4c42da73343 CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b048253c-a98c-4093-85e3-67578816d4cb CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50ab8c86-24c7-481d-a26e-76cbbf68e325 CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ef9323-179f-41ab-938a-7b7af47d9e54 CAID:CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2e05492-54e9-40e3-ba44-083e83f4320f CAID:CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06342b52-e8c4-435b-a7cd-082dbce004fe CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 758c04fd-e7e7-4520-8261-a789b182bbe9 CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797e1ccd-8ac9-4715-9b30-cb1762003557 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b4dd690-733e-49b8-9823-dabf5cfe31aa CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41d8f9a-09d0-49ba-aab3-2f8e416ba32a CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db88c0bb-310e-43de-9e25-aa71eeb64b7f CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b6c9b6-0333-46f1-88ea-4d90aa5d1d4d CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 130f9622-62f5-4bca-a686-dac6f4c96a61 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec10b94e-ffef-4be9-aac6-3a5d67d63a78 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 824eea98-3a4d-4e1d-96e2-1acb90b1c57a CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cbb66b-12ac-47fc-83e0-a8bbe45694da CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5105467-6653-4e33-9727-620c2a35e5ca CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1ebf92-7028-4c5d-812c-ccd65a405c5f CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4daaa0a0-de4c-485d-a200-8e644ef96c58 CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9631e3-3713-4596-a1fb-9c104bce53e9 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d0bdff4-7980-4eec-ae53-21425ebcae31 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84426f7b-b81a-4fa7-afb6-2e35adcf6d54 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1fb2c25-d7c8-4c10-b88d-00a87081e791 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b306a578-712b-496f-93d7-85c2814c5118 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1aa66e07-0c93-4ec8-b1b7-54249fd353b9 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50aff25e-5c63-4c51-9208-01292461a8c7 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c0b5b7-6cac-4250-81c9-bf925e863c6d CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c209d3-715f-4ec6-bb40-c1a9f1ec079a CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41c4124d-6462-4e9f-81f5-0583bfd895b8 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6022f8-5253-4d41-8cca-d28b64a2921e CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 429642a9-82c4-4037-8b5d-7f8c0f5d63ae CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565e9945-b191-4e56-acd7-f6965f12fde4 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46c3dc68-b7f2-4506-8512-f5a96a735011 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b699f68-8926-46bf-9a74-e8cb0fa4dcd0 CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30b3d77f-7ed0-4a6c-9a8b-ffca4e10e77f CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939bae3d-bb8e-442e-9d01-3fff02439087 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9586528d-93e8-4c74-8722-94d339cc3274 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c610b27-e2be-4fe1-915d-612302211d82 CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d45ad2e-4c98-4316-82aa-a55f5ff504d5 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d050e5-4f13-4502-b64d-620c1ed35f2f CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fc99639-39bf-4a55-9658-5ad2dc09bd6a CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550a3215-7120-4a58-b3d2-e765babc2728 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82165695-6f7d-4136-bd91-ce75d74d9638 CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112bc78c-b0a3-4e17-8be3-3b8688615d55 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10523ea7-e00d-4c95-95de-aaa25fc5937f CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ec2e2f-2c1c-49ea-884e-9419d766b795 CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8c365ef-0270-4be8-898c-05a22c9646eb CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfe233a-76d0-44d8-8b08-654ae6bff9f9 CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfa142ff-1d74-4b97-b63e-83e8b17461ad CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7763c042-2bf3-4f28-964e-c021ffce281d CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97467491-6c9a-46d2-b2f4-027f861210bb CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd82011-d7f9-49f2-b94b-e3a0b46638a6 CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b32fa40a-8c75-43f0-9191-6d6fde68a981 CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf883a4-34fc-4e55-9e7c-a71374ba940b CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efba1cc2-06cf-48aa-8edc-0f281a5717c5 CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1282e9-ca0b-41c7-99b2-099f81d12601 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6c769a1-be08-468f-a117-fb611f8f181f CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd3b7e70-2231-47fd-b380-3f38cbf52e01 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bbab862-0c13-4599-99bf-1f34264f6faa CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6fcf95-8be1-46af-b668-a5d0a75fe219 CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0b112b2-921b-4f87-8a7b-0974c2ddba00 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7adeaffe-57f2-4dea-96a5-430aede6de38 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56c1cbe2-5bd4-4b0f-aff0-36a96ac4e7c2 CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8c0d8b-9cbd-4d4f-bd6c-2c81c03f2841 CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a8165be-08dd-4099-b36b-2f93bfd599f3 CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c91cfa4-3215-4dbc-9432-81a5649ae9be CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 529304df-07d6-452a-b924-6524bef891ab CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b6d842-95d0-4810-961f-9e75866ae77e CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67720ef6-2eab-481d-81d5-5654ee105315 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb2cb3f-2dcc-4c8f-a96a-236eaba63777 CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73d45890-85f4-4928-84eb-7db8d33b4143 CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b78af1f-6ff6-4be4-ba2d-9cd9852bc240 CAID:CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b34374f-b2c3-470f-8d23-f698d66f38d2 CAID:CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f3b4c05-c9e9-4bbb-9eb8-5bc9c5481e57 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92143698-f8c2-457c-8ee4-926cc2eeac4e CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7373adb-d322-43ee-8b88-2bb5792c502a CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e174cef9-2f2f-49e9-86b7-f654fb7ea463 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edfa9e03-ab15-4838-b13d-1bee7cfff120 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 859be956-2add-4085-a693-f8e945064194 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8d12f2-2db6-4f9c-9944-ab20f6c34d1e CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08d3e2f5-60e6-4f94-9a73-e71cdb94c1f6 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763c3101-588e-4fb2-bf5b-76b8984782cf CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d542e992-dcbd-4c4c-92c7-0ba3524951c0 CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b19f97-9cdc-4672-bfcf-70c0ce9bf586 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b91c2cd-7ef6-4361-90e1-5a3d5e99f1b1 CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979ca816-58ff-43cb-95a0-68d224970ac8 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e3fb5c1-192b-46c9-a9a8-bcd93fa3f041 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb4a6f2-45bb-4617-bf8d-78986990bd44 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cd1c3aa-8adb-4429-bf11-dd0c3d0ddc78 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cbf7fd-1e49-459a-be60-87bc442fb5b9 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2dd4570e-1056-48b5-8b96-9a3086aa2be1 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4bd0ee-d295-4e07-9b23-416462b4a7ef CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bcad1bf-e2a3-447d-a64e-a03d1565649a CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d7fed9-be3b-4609-a269-2d83828fddb1 CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 937a19ed-c823-4347-be6e-b782e7c5e05e CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d82629d-4536-4c38-bfb8-ea6da0b74646 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8176bfc-48c2-465a-b120-aa09b698bb59 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a96e039-d15f-484a-89b6-ec3e7a019ea1 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9f6b09e-db4f-451d-a95a-e2467ddc1f04 CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd39de01-4328-497f-bdd6-00e539ffcefb CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 263343b5-493e-47c2-ac0a-fdde41b3bcc5 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3784acae-6a5c-406f-9d17-5a392b4db2e3 CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c406d18-2cfd-4233-ab02-d8022b34dec7 CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8537466f-5582-4d68-85c7-a9eb9a87a6bc CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e17b941-ece0-4dbd-bb9a-90583bb630f3 CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea44945-f2ee-457c-b76c-10157a0bbdbd CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d34136ca-22bb-4899-b0c9-1aeb5a4cd59d CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e3df68-d75e-4532-be1e-ef7e7895b32f CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 099b0938-10f7-4406-b042-6816772fddb6 CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756647dc-8759-45f7-a4b3-b8fa3509738f CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f8fa1b2-2689-4520-b6e4-90d5fefafdb0 CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1034f01d-8213-42fa-a4cd-7c01fbabf6ae CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5284b411-dae7-49df-b9bc-e11a5f1063ca CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994c2d67-000e-4a2c-ada5-c0c270730cd5 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 990d8ade-15cc-48a9-895e-7420a2219d48 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f70570-24d6-4327-a369-487e0e8d96c7 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7703cb1-e087-4c51-b44a-4ed0877edb3e CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2902bfa0-a8f6-471a-9b94-0b842352c7f1 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 832650a2-c9f5-4c2b-9187-f6975aaa464d CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10433df1-c1ae-4606-ba12-253a9640316e CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2d3c836-74e5-425b-be26-a2d03d57d4ee CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c159c9f4-5106-4145-9a5e-36cb07f5d7a8 CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4a5997c-5236-4f49-bcc9-bcad8dd8ada7 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce7000a-4bdc-45b0-acbb-6c8773e54db6 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55254688-1baf-4dc6-9156-28351013d6d1 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4387c0-3bc3-4a51-b484-8e4ed60c06f8 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 985951b9-07e6-4b35-b1d6-2ee07bc82ec6 CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3386ab-4a76-4a7f-8e01-a98c634d2b07 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7928f4e9-7a0b-429b-a560-ab1b8afd777b CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6584515-9d44-45d9-84e8-5aca22369be7 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 791cc474-a5b7-463a-a303-35ae11769f58 CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2e22f5-c69d-4309-a4b4-46b24297f117 CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db579dc1-c429-4963-b4c3-693c06d0208c CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756dcee3-7515-4494-b662-4b3aef434b35 CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5ee2aba-86ee-40fe-9a58-7052cc8152ff CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e121d51d-4120-48c0-b939-27668ab7fc16 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c08929fd-2ca2-4c88-96b6-6a8632b55432 CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3237b5-525f-49c7-8e68-a1d33aed37ca CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c98f7048-275e-4ef5-9675-1382c8bf7b47 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad981e1-33f5-4b2a-9bc6-8acc4dcaa98c CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbaafd53-3d32-4dbe-9574-06c10ab930b5 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d61f22-7294-4c90-800b-1da56679a24f CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5a20892-0ac0-43ba-8ff7-9bd263c7e20c CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e31993-43e6-40d2-97bc-0467b6873e21 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f16575a-ff61-4670-8fed-3d375dca896e CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383605ed-33b5-4834-a95b-69ac03978ae1 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5ff69b7-5c76-485d-aaf5-5d635b780119 CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51607f9-c0cf-4947-b4e9-c1dd09731928 CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b42f4211-ddd2-4ac1-8679-72d3f99715de CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcd2882-fee6-4fcf-8202-5e86228ed60a CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65e246a3-1338-4b70-97b3-c89c5a4a7bee CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8268c944-0236-4675-8852-deeee7a2f7f4 CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02b4acea-6c3e-4235-ac28-50cc79dc4c3a CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54da4104-f432-4bf9-9e9b-eeeb702b25fa CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50aea14f-ffb3-49bd-92b7-3af4b4424bc1 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187f8a7e-2080-46af-822d-89b85bf5247d CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21a99e2b-628b-4d9d-ac54-eab9d9141d4d CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c3bbf67-9faf-4bcc-8760-6ba6758cf612 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc4b3821-2b85-45a8-a3e1-c212ae28a469 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3f756b-bfb5-4e9e-b76c-1d0fdd15b85f CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9f101d5-56bb-4e77-b709-d92402ab500a CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83be140d-84f0-4869-8bcd-045600869218 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d592b5b-099d-4a8c-a9db-2025e00db2be CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a993ab84-1bf8-47d7-b1fd-f70299f164d8 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11f5af2b-feeb-42f8-b66e-6215ac9332ae CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39a8dcc-d9c9-4e11-b9ea-d19684205275 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eba75b0-d3ab-40b1-a5a6-0a65165a3e0a CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62895bdc-dc1d-43c6-8480-0a9999f097d4 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c41ca28b-5f28-4e05-b993-8062b1e5fb6c CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a6ba52-decd-425b-9b98-db67169139e5 CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aee0ec07-e718-40f7-8b0e-379a10f0f0b0 CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463d60cc-d077-42e6-99e4-1f331398e446 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cccc3118-0dc9-43fe-bfe0-d0622d656505 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34da74c0-0988-455f-b55c-f0e076866751 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60c140d4-f603-4566-83a9-4e67e3421b4b CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d55cad6e-5afa-486b-9a83-6f1c1fe1f68b CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4a8ae7f-5722-4dc8-9bda-45cb9f3b117a CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afef24e-e956-40b2-acee-909b0bf1113e CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 734e446c-896d-4c84-823e-f9b8c673131d CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d515f336-bc4e-4b03-b172-73e0a002eb72 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9397e90f-3afd-44bb-b02c-6616da14548b CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285f5694-1b66-403f-92ea-a6b67c78225c CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7a6af36-9797-41c7-ae7b-cd5aeba3d850 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cc91f4-6634-4ac3-a4d9-1b09af13ef11 CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8528d296-e583-4e0b-aca7-dfb5d288416e CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561f5e86-064e-4d12-a629-b0b68e27a651 CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93e7ab9a-5d80-48cd-9f50-7fe4449ad060 CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e109df93-11a9-46dd-ab84-68d3a8570b2d CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff95b443-6494-45b6-ba35-5f4ef0ead4c8 CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c9f970c-127a-4a53-bb91-0aece6e1337d CAID:CA367398657 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 085c03be-2956-4156-ba70-4901e112432e CAID:CA367398657 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005e898c-9e29-4a3c-a780-7d97663ddb04 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72a01308-3dee-432d-8dca-f1f74daf00cb CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf79b303-c7e5-4622-8feb-49711f593f97 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e15bf57c-99d0-4dda-814d-5ccc422a058a CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af821609-db14-4a3b-bc07-0364e43f04e3 CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4aa01013-37eb-4a89-8e65-d813e5560e3a CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a20fb3-2e79-43e5-a2c1-3a68449cf3b5 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 199d3563-69c0-43de-9493-b89bdc3df464 CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6f4cf8-98ab-444d-a699-156d02771726 CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29e341aa-d64e-4b2a-b147-f8a20dbf8ed2 CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980955b0-3db0-40ae-8d26-c6ac8653de95 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9604d406-2093-4a09-9406-3aeaaf5ea56f CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c50b4c1-8001-45f9-87e7-46f11a9272b9 CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3102e1ca-92c0-460d-884b-29f3ec1e6640 CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31901dd1-2a0e-4751-a357-ab95619e1f2f CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36e3d571-432a-4c29-9a3d-5b24456ccc36 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f321b25-f734-4d70-a515-ccd424f70ad8 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2efcf3ce-630b-424d-ad3c-78e12bf6ec06 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aac0ed6-5f24-4256-87bf-a85216cd199e CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d96d888-9dc9-4dd0-a06d-3115900217f0 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16989064-ec9c-429f-aea0-86a301df8270 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e34e473-6f94-424c-bb73-91a04e715ff6 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc07d84-09c0-4558-b0cd-903ac2eb3601 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9b2f3cb-b2e0-41f2-90eb-e4ba8b4d5c10 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad33046-a9ff-4152-bf47-b41f154cfcaf CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8d06c3a-58b1-474d-982e-bfdf00c071e1 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b33c43-5288-414f-be7f-515810b7d104 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3df50f45-6b19-4a03-8b74-e0ed98ac654d CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef9db97-a3c9-4661-b02b-e125456166af CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f9fba7-2e2a-4c2c-a11a-fb310c11053a CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8980436-768f-4090-8a20-7c7c668266e7 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a70a938-ed6d-4473-a636-a6b756986555 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed442d2c-3a4d-4786-859a-af0a43a9dc90 CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f39d9c10-a610-40cf-9d33-7f2040a266e5 CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb24d0e-b5d4-44bc-97cc-6971e5e401b3 CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de43dc60-2a4b-4b66-b899-5cd3b0a1d47e CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8b0265-f2d6-4f5f-94fd-69da40c76201 CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abb67d0a-9790-4746-9aae-bae67999a146 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf9379a-7f23-43a2-8541-7e7d53915cc7 CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40425779-fd9a-4747-8c27-098262da81f2 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd62977c-efa1-418b-a108-218d35759633 CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc52c242-c9f9-4271-bcdb-4ce4cd18b818 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4995e3c-c4a6-43a4-a002-112eaf8bcb0d CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2221212f-61d7-4482-af21-637f866a1fad CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b29904a-a3f2-4ec0-9952-da92db26c9cc CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff151801-e3a4-441c-9801-d34fd0b6db78 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c76c10-7a52-47f0-959f-90f64468ee88 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc20bed8-318e-433e-85b1-7cf2578f9c6a CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc7f628-4b9e-46f6-90a5-73a20ee4f5e6 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60f22b86-57b6-48ff-811d-cb1156a8230b CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434b2a80-99fb-43ac-8935-1b5a611b380c CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d796b1a6-40ac-46a3-9c2a-97ad312078e8 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5200307d-f424-4093-9171-9c9f2aa7e2e9 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dbb6791-d994-4746-9fa9-093c521d7311 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e320e5-583e-4dd8-8c72-a4023154848a CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40c90274-5b06-4a5e-bbd3-67e502dd798c CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db3db9f-a75d-4b58-88cd-8c9523eb136d CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3e275cb-0dfc-4a50-9890-92b7e788a2f5 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8e667e-a8c8-4609-abb0-d949e859a7cb CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ef7b98b-7957-4645-a448-22ff586f962b CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa8256e-d3b3-4cca-814e-bf38a3aa4209 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 937fcb68-f253-479a-b0f5-85fdaa1a8e90 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b5dd5f-10a9-4efc-81f3-5e69c94c34f2 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8af9e414-f3d4-431d-b256-797cc154cccc CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cdbb89b-646f-407d-b719-fc644f816961 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 383afb77-e6d6-4da3-b87a-23912952e1c6 CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f57ff9b-cedb-4117-8176-cdfb7d52b3ab CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56c663f9-dc2d-41a3-81f6-97b4e6fd62ce CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517dced9-2f76-4442-92a3-1f315309d0a3 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afe8c476-5fc0-4cd1-828d-e19d7c958e8d CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c481aef-fd03-43ff-a43c-3c60800d8b0e CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff2edb4e-c549-4744-b275-7eef6b74c1bb CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41f5fe0-c8fc-46a7-b4bb-79d8247650cf CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b87d5cc-23ef-4429-9acd-f3c3a4d2ff0c CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02876603-328e-4adb-9441-14c20e4489ee CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e157b48-feee-4268-8e81-9cee131572cc CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1e71df-a68d-4bbd-a9c9-26b737b8b8a4 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8640ab29-b31a-43dd-9879-53b314dd51fc CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0f40a3-7e4a-4384-ab45-942fa9fe6328 CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 538d17c3-50dd-47e9-95d6-166672d67973 CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d781665-bc15-48c1-8e3e-69795a5fc78a CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cac5153-4a08-4558-b48e-8251ab042413 CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05346d4-56da-45a6-9687-76c1e021c172 CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e3fc914-8e37-4978-80d9-1ce5d95b21bb CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b79b46-05e0-416e-8e4a-edfea7f0716a CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e234a32c-dcf8-4b9c-8ddc-66cb792572b2 CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc854af7-2c32-4002-b644-be10acb0a332 CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abed56ce-6655-43b7-a2bc-17ace8a7aff5 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1684372a-ddf1-49fc-bab8-d731d479c17e CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47cdc72a-cbb9-4ddc-bd69-f783aed4f9b2 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e29cc5-5a81-4110-852f-0a53731ccb6b CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e69a896-152b-4771-bb64-81582204cb2f CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df536f97-2f5b-47b1-828f-f01f1e29f58d CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76a479d2-1c9f-466c-bf7c-1c9f6ff348fc CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0785b4-4790-4fd2-b147-15644456be2a CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f57451de-f1b3-4fa6-867f-fcd2ae9e6e3d CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336f8e0a-d3ee-4dba-8489-cdd96d48e590 CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f4da16c-6789-4a98-b83b-044ee2887483 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb51a833-3278-402c-81af-7d07f1ea313e CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6332270c-766d-4671-8d67-5634adb8d725 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2b1580-22db-4819-ba40-c8881f611a60 CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f1f8028-5e8d-4418-a0d0-65e398b5bf6b CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3810b1-e69b-4117-b634-81b6d47610d5 CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b076cf44-be46-456b-a4a4-b09bd1f97cbe CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234eeb4d-bad4-40c9-a911-96fb39f5d3b2 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b39f8cd-a495-4b75-859f-36b299276efc CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897b81d0-e2fb-47e0-a698-2be58b0b7938 CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 156f5010-84ba-4afc-a294-c56579dc442f CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac62712f-feff-4e71-824c-c31622ebce33 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17b3f450-6908-41c9-9f46-dd6b04e8a306 CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f786174-bd76-4809-a00e-55b60250cb38 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace0207c-05ce-4bd7-bf08-2a42e6612280 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7234b7fd-7732-4f64-874a-1459d53b6b5c CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04163f07-d6f2-4955-9d68-da4cffab49b6 CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7091e755-8d9b-40af-b47a-ee8ee85ce660 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba3a8530-fb34-49c7-b964-8b38e1d83eb4 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2849466e-1871-46b5-8446-f8fd98c133df CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41fa69cb-387e-4ecb-a3a2-8e58328cca7f CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a92fd2-fa1b-4a35-a74d-ac3b901745b5 CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abd61f65-9162-42ec-bb05-dc802cae42ed CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2396fe2-be54-4c18-ab29-01385a7db93e CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6db61e3d-4637-42c7-b4b8-6c597407f2d3 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f02285-7981-4a31-b065-2c596ddaf5d5 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b1ec060-6cb7-4ed6-9c1e-260fd550c545 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f949b2-08e6-4801-bd75-85dcdb9a9eea CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9703836c-cbd1-48f0-9b09-71d984b71ab3 CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58b53aa-38ec-493e-a6a5-a79aba93cfa9 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e5a22f8-48ca-409f-953e-c7faa23777ea CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c295f4-6606-4cc1-a6da-59fff4a4c792 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2af55a6-093b-4661-adb9-b27e1ceae998 CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf53477-0f97-4ad0-8e7c-2ee0d32506ed CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a2822d8-25ba-4521-a5de-d3a1fa609492 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76bdc631-bfbe-47ce-9f8c-d086147ee930 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a3fb9b1-750e-4077-8f88-79ec0eabf4c6 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285e4fad-3945-47f0-a665-15ad0f677d9e CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd75a6e2-761a-4a63-9b2a-d51b91e3ec69 CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e99ece-b290-4946-98ef-84d28965368c CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bdfc647-9452-4ac5-a042-b04cb66e1558 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272b3a79-72b3-48ec-9db7-1515953fa76e CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1323c64-3b5c-43fb-bbb9-f149d62e7c65 CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc02998-0c69-46ce-a30d-1e3ec68f4e47 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4db3c1e4-db09-402c-a097-e391d9a9b7b7 CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43ecd0b-7b8b-4c77-9b10-9c0f464e1840 CAID:CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1b0741e-c0ea-464c-9a07-3b6c17fce024 CAID:CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2b3f91-5b6b-4ddc-b41c-56cd181c16d8 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5587a44a-914b-4ca9-859b-f6fb686c9c73 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f34830b6-1408-4ec2-9060-2567c876031d CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9cd5f11-5901-4f9a-a3b3-a2b054c48722 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a987b3-6f2c-417e-90d2-b31f8fcfe1dc CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6647ae3-f7aa-4a42-a5a8-9203e57819ef CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2210b517-e30d-4ce5-8e00-91fd4e351300 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 377c2b45-969c-4e8c-9368-7c268f24bd02 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3740036d-0ac7-47f8-af28-dd42e40b1313 CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fa22980-5d64-499a-9c64-62d94cedb35d CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ac5a88-5198-4ede-be61-e46d26c184e5 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2911b59c-997b-459e-a4d5-28c03f859054 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6201ec6b-9792-47c9-9cff-ac8cdd36f265 CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce4b1cf8-393d-4ca0-ab28-9dc6e31dfc11 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f203bb2-1063-43f6-8926-0b5ed9fc0dbe CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97c9a848-6980-4cfd-ba22-dfa68c901463 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e91fbf-8a36-48d0-b341-fd519aed8f51 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 084a6ab4-0bfd-4bfb-8278-73ac46e2cff3 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739d7eda-e9da-4d39-aa69-fffa96245faa CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6636b936-5ffa-4bca-9d24-27a4eed16353 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8241541-9239-47fd-97b1-abfa7ee20e6a CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f55a711-922f-498b-9e89-8754d12e22d9 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f82367c-e5df-4886-941b-a7260ebed368 CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11c3f212-780c-44f3-a601-42f50e7d814a CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa00733-b191-458c-9a3e-e28e414941cf CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 296be0c8-103c-45ab-a6dc-fd370062f65b CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7b3b4b-c698-49aa-a99d-e05936600d80 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca7bbcfb-d55d-472c-9c87-7ada9491560c CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d4963a-f7b4-44ab-a00a-510673e7c9b0 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d48195d3-2a62-4dad-84ab-1369a022ef27 CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b315f9-a3dd-4d25-ae27-954a31175d26 CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24224b03-b400-4e2c-8ac1-c4d259c32c7c CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79049413-1c28-49bc-8c11-3756433f407e CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 230cb0b5-b52f-48fd-90da-94fe765461b0 CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0dd37f6-4b85-4b1b-a08d-090b46bc446c CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f83bc582-3a35-4af1-a0d7-1f43eb18698b CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f11d276f-8c19-4d8d-a232-214048ed9128 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 136f7dd6-3e07-4f09-a80d-82e52624222e CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de64aca0-ae34-49b8-89b8-f20d2cae58d5 CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 558b1bfc-e896-4429-a22d-e65b4fe9c822 CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdfd3c9-193c-46b3-9d25-49cd1a8c6176 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95123dc0-56e8-4adb-b194-2b9ebce7694c CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0e728e-7214-462a-af3d-26eebb64c958 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4546c57e-ee2c-4842-88cf-44bcf77d45b6 CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3ab76b-d44c-45e3-9498-697de34dc31c CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9085aea9-d87e-4778-8bdc-766d7a65da5f CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97dd40d0-95d8-4b29-97e9-593c83232edb CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cf5074e-050e-4334-9da1-950ad22831d8 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba7fd45-b223-4bf3-8969-dc3758c4ae94 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20fa7c0b-8e5e-4d61-b129-97b17cdac755 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0472b656-d5be-49a7-8a63-d30104bc7370 CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aef44f23-dd4b-4b82-8e2b-3f66a75d9d6b CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c96d5a-2dc9-4a2a-87f7-0b02534db8e5 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70bbc186-e59d-4a1a-b1e3-6fa435df7fe3 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f329dec1-ede5-41a9-a6c4-ace6c08e6179 CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d760f688-7345-47b4-abaf-5dfa1d09ffc9 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90aee35b-c393-4993-a2b4-7ae29e01c1ac CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen badc1cc2-6475-4ad3-a71b-a95a7398fdbb CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b32ba7-4b0d-48ab-be4b-61ba5685e9f8 CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e48f2388-7804-457f-8ec3-d8a8397d61a7 CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f57b2c3-ef8b-4c62-aea8-3faf2565042d CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02a5ede3-bc6b-4ab5-93fd-6955e6301ed1 CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b2f71c-cbf8-44a9-a340-10e01fa96007 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c76250de-31ec-4add-8d8b-6670555b7ba6 CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7403702-e932-463d-81ba-a55ff594c781 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70eacac7-f1ed-4cb5-8cb9-3c90cd7a17ed CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e7dd5e-10b8-48be-b130-dca5cace3cf6 CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1109d327-6393-4ce0-a555-771a73b42407 CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf9ba48-a230-494c-a8f7-861bf70f4f22 CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df108a05-6306-4461-95a7-4316c57135b4 CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92241f4e-6bf8-41f8-8be4-f666d750ef24 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1800d04d-2175-4c9a-8188-1ad5be9906e0 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832a9915-8c92-49fd-9751-d3ca3c24e874 CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70621d2b-1cbb-4320-83c4-965fc110af72 CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487a0f54-689b-4a11-8530-a7ca8f34cd20 CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1d54007-5e85-477e-bc75-690a21aedaff CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen badbdcd5-bcf8-42fc-be13-301621f6d278 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 718e68a4-9962-4c76-a5e4-a445c1edaac5 CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40df40bb-b62d-469e-a796-75863bb7c8c2 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b341957-252b-4947-b2a4-28dcdecfe28c CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ac324e-850c-45f7-a4d7-16fc94fb9b80 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11d2c22e-e3a5-4bce-8c27-082e18399978 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cfb2c2-53da-43f2-8c27-5dfc56a293a7 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9300aac0-4d0f-4439-8b75-cc508eb0bd52 CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8179b92a-029d-4c84-a598-4e65250e17ed CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfb4ce78-497b-4ead-8979-8888950bd874 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fa9225-76df-46dd-b4f0-a3e576221af6 CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1df7fea5-16b6-4bed-9754-35cbbd74dfd6 CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58982f89-51bd-4e65-845d-fddc6471961a CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e006bc3-790d-4851-ad4b-edce585b932c CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360ec4e0-1d17-4ac9-83e5-803ecfee1b85 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61d784b3-efd0-4a02-8498-ad71a67953e6 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdf6971-bed4-4ac3-bbe1-394e4cde2e9c CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7aa2027-05fb-489f-8451-ca01a3b17505 CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2eb882-bf14-4cf6-9a67-15721c01b831 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc371fc1-ed27-4472-b423-01cf1b2dac46 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ad7ca5-20ff-4b05-a325-993182fea2d2 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5005f3d-5e8c-41b7-bdb6-d657dd04f3fa CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e01e8bd-b02a-49e0-b4b5-ffa391759423 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f156cc8-15e3-45bc-b59b-dd7ba2b6e911 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce8e80e-5624-4432-aba0-6064426369ea CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed531c7d-328a-4dd1-966e-9855820bdbfb CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7197e90c-9f86-44eb-81c8-c3b5b1539db5 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3302b604-29e6-49d3-a4d3-f0861f9f38d6 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf4f886-50dd-4df5-8ceb-53bd99323754 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe17d44f-4ef2-4c5e-a72f-ee6fa9820ea7 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafd7048-7d87-4e49-9d4a-adb6c3f8b97d CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f849744e-e44d-408e-853d-87481234afcb CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ecab38c-ae66-48ad-aa06-a1d09b25e433 CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 635f685e-06f5-42a6-99a2-9cd20f208ac4 CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52b51a5-1f6f-4b92-a3c8-56ffd1e424c9 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6432cb6f-f946-496d-948f-9826147f8ea6 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f76503-af6e-4137-a6a1-6d590e0e1ade CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19451210-59fb-4c3b-9f94-adf88a1ca1bc CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e88cca6-99f6-4f49-aee4-4dc69f39cb5e CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9afa4140-175e-40f4-915a-92f803127910 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f530a2b2-0c54-40ab-8353-9aa984484bf6 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce5d1415-c019-4f7a-8f20-02e4e513e5b7 CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac43933-f6e5-4430-8e14-fe121d339f7c CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 081a41c6-2342-469a-a7ea-bb02238b3e5c CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9aee67-dbfe-4faf-83a0-d1607a42dbe2 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6d1d873-6210-4b4f-adb8-e993b4314de5 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e64ab19-b9b2-4c57-baaa-36a1f4a50181 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5569c8ae-f3c0-4ac3-9819-ee089d67c6fc CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b7cacd-51d9-4c22-afaf-7f7bf91ed0b7 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a223a5c-009b-45ca-a6e1-e13fb83517c9 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab9f6e2-d961-4f65-a7da-8e4d51d9c1c9 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f685392-4002-4e7f-ba05-1656ecf7f3c6 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797092a9-28f9-48fe-afd5-b5bedb89b82d CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aa0b9ef-1f47-4df9-b2ac-fd15b6a733cf CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a783ab75-7274-4931-99d2-6461f57c73d9 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2c776da-cf54-4bb4-a2b9-e9039466290b CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee68ec7d-2b19-44cc-93bc-45af5d5ff406 CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab5709ef-d909-4e5c-ba1b-0a8bb88e288c CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcea1d37-6ff3-49bb-93ef-c6450f8cd793 CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39adc212-ec6b-4cd9-a848-e9a7ac54670b CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3821a86e-510e-4533-a22f-e309c57ee994 CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13d29b9e-5471-4d95-9887-d7ee963daf8d CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6e8bbe-fb60-43c5-9e2d-6d9e79b4658b CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9c38073-2de3-4d56-9750-1b1ac3807590 CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724f6a2e-a5a4-4421-85d6-6e1e4a75289d CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cc4f77c-9b46-45e2-b153-fae6b7429db3 CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f569d2-1cbf-4c74-bbff-468ea4fa649b CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5defc80c-1cc1-4863-a4c2-96f488cc0694 CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85760fb3-5ad9-478d-a43a-94ac2156a42e CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e688955-c592-4a4a-8fad-7f8fdb9a9afe CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f686bc1f-6eed-4b29-80d8-947fbbc2f7c9 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c17c3c8-973b-43a5-ba0b-606b3facdff2 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df3f5bf-ffc6-4385-8159-ba6d9ea54d79 CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ef4f816-7311-4d8f-ac0e-6ec7c043e8b3 CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fe9ff8-7fa4-409f-9318-49ce6bb92ca6 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca297c82-c73a-42e9-aca1-90d21d20d83b CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759334e7-b038-4c1a-8eda-73861c4bf239 CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd9dad12-3260-4e25-bdaf-42b73885a1bd CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29526694-c76c-46c4-b282-b3b7531330ed CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c45c3e0e-bee5-4756-b21e-b44b78f62046 CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de78b1a-b006-452d-b9b4-0391f9c14450 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5adacbb9-b636-4df4-97b4-cead4b1ed4b0 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43755d05-3955-4f57-aa02-79461a68a669 CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76f74396-7278-4363-a2fc-d0138be97bf6 CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb2762b-9a60-48b2-adb0-295e78545175 CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d5f5ded-7192-4a5f-b39b-dd02c0ee74ce CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6bd974-4e32-4d0d-937b-ceb933d5cb32 CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 927353b6-a2fc-4b5e-b510-2d873f5b7d87 CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8facbe78-4ae2-4228-9060-cca31aba0548 CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 764315b8-8757-4d45-b87c-033cb7585eb9 CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906f7f76-cfd8-4ba2-9dd7-34a895086fe4 CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22eef582-0b75-4e3d-97c4-7227d3a3126b CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56283bf-da6a-4092-b150-b7994cedcf82 CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c805429-3772-423b-9e23-5426f3f52af4 CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae026bda-489b-4a59-922d-87850098afd8 CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0da74cda-7884-4c29-82dc-50b11a97a15b CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae815643-aa11-41ac-aff7-a84cf981d8a0 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f241a141-88e9-4a71-9001-46bfbf9496b0 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e59b9d-f85d-46fc-bf6c-7a67b43fb2c3 CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5badd4c-717c-4d19-85bf-3fb37dc4a948 CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f68e039-6b2b-4b27-9a93-b7909d2378e2 CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c038ad40-f521-486f-9ca9-9600d3337b9b CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658eb3db-3ded-45a4-b909-2b997cf5fa19 CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eea39457-2430-40b8-873c-d6a12fc7a1ee CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6b793f7-1a24-4256-bd48-ab7521c934a9 CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b54d2ef-593c-48bc-8646-0d3afae8b4a4 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a6b8a1-7f49-4dc1-bd48-fba8ead7b93a CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8c9c320-8101-4f3e-a61b-34c3d8a9e76f CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8f43f4-94dd-4e4e-bde0-eb7ee9d5bc89 CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58199696-4b4a-4697-8d24-55e920d39822 CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ce1e6a-e9b8-4e1a-a365-22411ec204d6 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dbe5df4-15c1-4993-8d2a-1ca74efdf4a4 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09eac4ea-3236-4bc9-9797-70ab184cca82 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5259031d-d40e-4e7a-8d76-8fc5feaa0606 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67eec23c-bfce-4b1f-bbdd-977b9a5bb080 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd8036a2-80f1-4f23-a50e-1e429c26699e CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2274ac65-6fb7-4eff-bb9f-22e62a26eb6b CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85a66203-169b-4878-8b26-a99c70f5c6b1 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a7954c-7674-4318-ad44-ae9c4e3e8f63 CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af2d2f6f-0058-4fc4-8a5b-b8641122a355 CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33b01a4-6687-4f7c-9792-302d303ac0e0 CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d059de1e-7beb-49b0-9353-98623486cc13 CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad40292f-967e-4cb7-b2a0-d1b42c136d4b CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 812001db-21e9-475a-9890-3360ddebaa70 CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41caeea-b281-4bb0-98c2-6e700c2fc887 CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86be84f5-f107-45f4-938b-22bdc96136d6 CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6897d1-7022-4429-b395-86921d2c06b1 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17426d13-540b-461b-8899-0644f019ffcb CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccfb84f-3433-42ab-9a1e-2766d7f42bf8 CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4a94a1f-6d95-4258-b3bf-4ed166acf784 CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca1ebb4-b450-4449-9333-812a80d36ab6 CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffa13fdd-faa6-4236-a99d-8e82e775f551 CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5367350d-9a63-4eaf-b4be-c2631bb30964 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0305062-aac0-4cc1-b443-a8c989af933c CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69b399e-8e52-4868-adb7-3843af0709e7 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1694cd3-9e37-4dc6-9c15-537831452f84 CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116babde-157f-4069-9a61-171758fa99b2 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c5baebc-f6b7-406d-8330-affd22d0fe7b CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cbfc776-521c-4c04-8205-c8900428bb6d CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81a67651-cea1-453c-9979-d4733514e488 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0edcb2a-f783-4520-864d-956627a52297 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e31fc5c-f4fb-4aff-bcd4-da73cc442eea CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b282e9-be56-4438-9038-2600867e47c9 CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e000032-99d0-432b-a7a7-1648adffd005 CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9742039e-a166-4028-b12d-f83335547d4e CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f579e56-7206-45c4-be68-9b0887cd15d7 CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d2aa42-80f9-4884-b175-a8d10d4e04c5 CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6df3c23-5053-496a-94a1-a0255f648394 CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de1c1fa-95dd-4147-a24c-31a6b1f4606a CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 771c6655-1e23-471a-b301-826d9722995f CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7114f747-a0bd-47b1-beb7-7c97070f646b CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd615d4f-67ca-43ad-8d55-5f12bccf6734 CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3672d25-ba73-4b26-ad6f-b03abde13a0e CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 805034a2-c966-4098-8223-de0fae204be4 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9e3519-4fd5-473f-8eb0-8063e59e1099 CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d9d4266-bb26-4d3a-8498-f03fb9f4ac3c CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13a9634-ec96-4d11-907a-1e5e35b979ac CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e24b0a-454b-4fa9-8503-d1126e9b9e19 CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ac44ee-8c75-47e9-b5a4-db59d488813f CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c08b0cf2-505d-4bdc-abc7-571bf27c280d CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2006ae-0da8-4e14-af4e-c2ed58b17451 CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65b60cbd-b129-46bc-99be-982269a87dc5 CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd354790-625b-46ed-a114-90b88743e461 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32cea7a4-079e-4161-82fc-4ec1a258f7a9 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2ef706-610b-4983-8532-6873c78eab7c CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ca1c71d-7f7d-405d-9d91-400962bd41d7 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d05fc6f4-ed5e-49ba-a559-ddcdc977ed57 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98130a76-8af1-4e58-93c2-c88d1a25e0d8 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49435580-d394-41cf-854c-5f05060acd36 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47f16e37-689d-4781-b1b0-72007b54c36b CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f513005-5671-4f82-8283-7125223517f2 CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86222e01-8d0d-4b07-9489-76f0e3c3b8f1 CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97a668d-5126-43fd-8879-78d525f65351 CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b67f8a4-c729-4a3d-9e60-63033a0d4d6f CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b566b877-6e25-4e49-b13b-36b93d3fc653 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 880c7c80-3a93-43ed-8d84-39870f38cb9e CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9ef2d6-1ad4-4ffa-ab31-be86218a8ac2 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed618613-6d5a-450f-a8df-173d4df64c6c CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e44bdfb-e87e-4fa2-b964-813fbd047d64 CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05f93ef7-3034-4dda-b835-003484f58a50 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3e741e-01c1-4377-bf70-b83a10b57c61 CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8ebe665-2a13-43bc-b14b-b1c48397d951 CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1caa6a07-50bc-4480-ae1a-b8c8d6634d55 CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f539821b-b7e5-4804-8b73-a80f6d241dd0 CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62abe69e-e653-4066-8683-e27a3bfdff5b CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a479c9a-8f22-49e3-a4b7-811d07e11260 CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9996b8-73a6-4c16-bdf6-58a1c6a465bf CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfe8daa1-219f-4f03-a439-ef5d63f8eef6 CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22e5d5f-3fb8-4d3c-946c-1c18f6bfe8e3 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63c4d6e9-72e3-4e3d-9d88-fdaa19115ef6 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e725cdc-6b59-4219-acf2-4aa499f4a6c1 CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a924248-4891-483a-a134-a8b12410a6cc CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffc3806-6e04-47b9-9252-70a83949d6fb CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4000cafd-1b8a-47aa-90de-6c509fac7995 CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afea553-cbe4-4bd2-b80f-9cf164b05930 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b78b71b-43bf-40e0-9076-79cf7ad2a75b CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53399e3a-0156-44fc-93b6-5be3fe11b12c CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d55b5170-3589-46d1-bba6-cd00d15c8ab4 CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd31fabf-2086-4265-bde4-c531cb9b682e CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb224c1b-ad64-4c48-92ef-6e4822dadf2f CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2579bf0-05d6-4a32-91a8-225ecdceed55 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b498134c-7dd2-4746-9afb-cda6f09aa34d CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f633172-ce22-4c99-b8c6-54040995ce28 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9957f54f-cf50-4e3f-a128-57945cddd691 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ede0f1-cc1f-45ec-b6ae-c947a951f5f2 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66c8880f-8338-484a-99fd-7ed27aaa83b3 CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba0d142-ddbe-4fb4-aa5c-a6ceedf0e4ec CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce0769bf-b66c-4537-8df8-4da1a3cbf0f6 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732fabd0-11d3-4c0f-b481-00788771ab5d CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a620b68f-5926-4fab-9242-3824782a8a18 CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde7ed8b-8299-4dd6-9f05-a18e8a151210 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 866e1344-c04e-448d-bfff-6a63761c8d4f CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2dcf0d4-4471-4ca6-89f9-4c77aae0f010 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11d35cbd-bc7f-4600-870b-309c9e01255f CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e65814-8177-4fae-bee9-818309fa1c48 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dca1ce9-a606-4e84-a5aa-91a66d3a7aa9 CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df861ab-b619-4ced-a47f-384accc5b7e3 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deadb4e6-b01f-46b6-9124-1ec3f9d1dc2c CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d011003b-d26d-4404-a9bd-b15102c165a3 CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f225d5e7-62fc-41e9-ac6e-40a4b816f00a CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61675424-a440-4799-8502-805aed021616 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70069546-feae-41e4-b2c8-a1265d36d6b3 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5aebfc1-04dd-419a-ac0f-d92567f39cb7 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18a7a199-c7ae-4cc5-b681-92c528914c0d CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf34fec-87bf-42a3-9a83-bedf665286d4 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69b67903-f242-471d-8428-b127d5fe005f CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8fb4c2-39b8-4ab4-874d-08bc9e83e0fb CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59dc37e9-8cd0-4698-a621-60bf2abe613b CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bef7c58-7e5f-4955-b029-cbab53b397da CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c42b1e4f-e708-4105-b9e6-a7365844b1d1 CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb0ac3e-5287-433f-852f-aec7d9b32fde CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5e93572-a9c3-45b9-bea0-9dd9865d31ed CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acb0909-e10f-441b-ba40-8f37e2318452 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 297cbf6e-b404-41b8-a11a-8a475c20b089 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76a9223-1394-417a-97a6-bb4ca36539ce CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f63877fc-dff6-4ffa-9be7-a9e939e7ee2b CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ad56f9-c633-481d-922d-0e3ced4b14de CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68e3179f-dd0b-4a4f-b351-b3359b2bf1e9 CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483e7ddc-3bb8-411c-8fa0-7d714963c9ad CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ab2b464-a56d-46ee-bba7-81f5fbb3218e CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6f49a9-b8be-464e-be0e-37c1dbc80465 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0404b451-5f2d-4544-9fe1-a7a681d55ba0 CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af33c6ec-ff7d-47ce-866c-d1f7d9dcfe13 CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42485eb6-da15-4ba6-ae7b-27e78908e3b6 CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90daa41-fbf3-4297-b610-a4e8b04dbf3b CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b80bf5c-ac86-49b7-af0f-300103a42ede CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451c73aa-27eb-41cd-a183-dd93bc1fdab9 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a5caed6-351c-493a-87ea-003a7650fac1 CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18819d4-4f3a-4080-ba05-ff7840d7f0cf CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8762ace3-65c0-4225-9f4f-721666d9f487 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aec78f4-f46f-4172-80a7-b56cf3da94c4 CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5536dde4-9b14-4c6a-8ac5-9ea65bda2849 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f426e30-d82b-41b6-b9cb-9c4e3bee6b59 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41bd9689-a820-4a04-9a05-986957b0eb08 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596e079d-cda6-46fd-800b-5b843e7e2422 CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6d84b34-75a3-4fd1-914f-146c6a07bf1c CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9eabc8-217c-4e69-a35b-475f3914f3ad CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c74c0209-7948-4026-b207-7e4c717ab78f CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45b2ddf9-f242-4290-9cd0-4e91c1e4fc10 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ba5cc6e-8515-4c1b-91c3-95ce320dcb57 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc9d2b0-690a-4696-b328-d0db36ca011a CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8dcd882-ffd9-4951-a13f-61e6392bedf0 CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b452f34-c68f-41bb-bcff-fdc0aeaa9e98 CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bdfedb6-091d-43df-93df-8a2787d94ac6 CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad7276d-2ed7-47e4-b76e-0569042fd32d CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68544d92-d41e-44b8-bc16-f0cbdc4916b8 CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2859f0f3-3990-4b56-9e58-40da8beb2f04 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e775fe24-636e-433d-8138-9a8acbff0821 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46655bb-9fe4-40e3-ac2e-d2b3c1cc7bf0 CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37f9e824-7e29-4529-8533-5b98e0367019 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba7eaa8-dc9c-467a-bb28-d257915229eb CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 925214c2-67d8-429d-b041-2b4f16ff1ef7 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce286092-19f2-495b-aa17-a3977f0b0334 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00ac0f69-42f0-49e4-a817-4aaeb869fdf6 CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d618b6-03f9-415d-b89e-400a434216c4 CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07e86e3c-955c-435a-9394-c94131907594 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ead183-9e2d-4001-9c92-006328be5964 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cff4535-6ab3-4d34-9590-5e580565af2b CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a0d3ae-b5d5-44a0-804c-b600fb5a6a96 CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69ca7ef5-64ed-495c-8bb5-3e64b4825e66 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95135dec-b0cd-4b88-a67a-a6aaacb7a3f2 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4611c5d-cbe3-4ae6-858c-b0ac600e92d3 CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502aaa0a-99b6-4a14-8960-84079eadb670 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1527d20e-0baa-41f8-9691-fde3e534fae2 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4456cc07-7eea-466c-a458-db71471e834e CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bb69914-cb6d-48b1-8ecc-752fa6ed3292 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd83d021-0f42-435c-a7d8-4694d1805741 CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e22c648-9f68-48c6-bf97-89b6491cd4f8 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31aa1110-c66f-4a6c-bdfd-d53d541dabfd CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfa4bec3-1329-44d0-a33d-2d400b41725f CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91e0a3c-dbdb-466f-a35c-68ce712711b2 CAID:CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59ffe109-9475-4759-a2b0-ec9987a92e77 CAID:CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875e7b10-ff87-456c-94ed-ae5e311f238e CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc28ddb4-3e45-4ebc-bc73-1b959546e67e CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ca90c0-4aa6-4123-a487-b983c615193d CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c7c353a-6ad4-4d96-9d30-ae4b455455fe CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65ddf80-34b7-4a08-9811-8259b382bec0 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e2d7f6a-93c5-464b-8c60-d9429c0dd0ef CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72f4c36-5d22-4fb2-b514-ce4a9cee0992 CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83e7a91e-a7c2-440f-a585-98dcb88685fd CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ed2ab3-6904-435e-b9c1-162f29bb3dd2 CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 196c8257-e83a-421c-aa18-12500450aa9d CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ca30c3-8a5a-403a-bea3-8840580ff372 CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0fd15fd-9d8c-44e9-b400-ba6bf323523d CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4004989-163e-46df-b725-ae5750ed64af CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92ae2180-3c30-47d1-bfb6-da19610a771d CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2398a8-ab55-4947-915d-f124583f7303 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1c2e005-17ff-4b12-8586-315a08561f37 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3594e197-a8e7-4a35-a916-77089eccd4de CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37a62c28-9fb1-46ea-a4ac-f2408c20bbfb CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58095e18-cef8-4510-b96f-00660aeb7603 CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48dcdc6e-63e9-4a9d-b6e2-6d23cccea071 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1a993b-5435-43bf-9322-c2edab6f3b8f CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68f0a646-0d1e-469c-aa4f-a0254c3d4c01 CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff7bdd4-04b0-4b9d-8124-193ad68cf973 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9be21546-bbf5-4d55-8b2e-3e39deae52c7 CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740b561a-ac69-4c33-91ed-46e3e8a8e0a8 CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77eb0cfe-2a59-4574-b98a-32c7f0f901cb CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58aebd5-a518-43b4-b892-67e6fe8cfb2a CAID:CA414905047 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 118ea8fc-54db-452d-94de-5c9c6441e77b CAID:CA414905047 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913c070a-8c34-41fa-904b-99f728ce30ba CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66ff5673-6d80-4c74-a635-33705cef814a CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02aa78a9-89bd-4a86-9255-1b5fb5a6a886 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 687e1c90-7268-4206-b70a-55df20efa181 CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a82181-ff24-4ab4-8e5a-026eee6a1bac CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0436f481-47a1-47c2-9f54-22659b5c4dec CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c410ed99-6c5f-4b6f-9860-6367d40c7d7e CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6427cecf-2088-4625-8e79-d8031c3ad6cc CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2e0c5d-c4ed-4666-97b3-1201ccc3872d CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6686610-30f7-4f8d-ac09-0687e5aa29ad CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7f13e0-778d-4051-8d1c-304d1ddde8a3 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d227613-1935-40be-b480-9ab1740e1cfb CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a80ad3-99b0-4b3b-9b2f-999d6fdbd84b CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0765f660-3a68-401c-b1e3-bae4ca3d1f6d CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a589f6-e3be-4ad6-ba0c-134030780779 CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cbe038a-e084-4578-bf73-f7715ea8609c CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d615fbd-44af-4ff5-a7e2-4dab4fe6c559 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 432aa2e3-e2ef-4fee-8d21-ae4699f01a38 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89fa9392-2a60-431c-a096-79f38cebe3e2 CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d6eee11-061d-4c70-b666-01b68bf45cac CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb4da9b-1a48-4bc5-9840-d700047b0040 CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e046f07a-08ad-47c5-b45d-24d1cc5f75ae CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202c913e-baad-40f8-8f51-3961aeb3efac CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e72a6524-3b62-4c06-9c26-8e6eb30913e8 CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11629788-d0c9-49d7-b2d7-c0ded74ce114 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd67bce6-331b-42d5-8ae8-8e079aa44335 CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c03bba9-0c6d-483d-bb1a-61adb952461a CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7f4f0ee-c409-42da-8a1a-3dadadfbde49 CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e1e12f-b5a3-47e9-a8aa-68932460ddb0 CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35cdbdf7-d1ec-4145-b085-a4dfa83f0594 CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3f1003-168e-4a1a-86d7-c1bd1280fe55 CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e984f6f-b5fc-4822-9a97-50145b5be2e1 CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd3bbce-676f-463c-8041-0dce5486f623 CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b457582e-5d1c-4d07-b4d4-0dac6f520456 CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12a3fb7-6c01-402d-8d36-41029267483b CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2343e68a-fb58-4b69-b83d-d37f8c9bd4c0 CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcdcb1e-d538-456d-8efa-d69e97c4cbab CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9442b07-1ad8-49a6-8431-caa4c551e0b8 CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e63b03a-3252-4233-b5a1-dfaf26d222c0 CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1cdd1f3-8759-4d31-b564-a817142f8681 CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f3fbfd-c87e-4d85-bb4c-576bded1b1d5 CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1de195f-c3d9-494f-88d7-23648f04a07b CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b541988e-1d92-424a-86cb-525931b3d52a CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5f05b94-9147-46a1-bb81-58cbb84624ed CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96bca0e-28b9-4a37-9c3b-f24373f3aba4 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31a84bf8-3085-4119-9499-806a3fcd0c17 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1634d730-873b-4d49-b1a8-1bf32c9b084d CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fbebb75-4fb1-4ce4-947f-d5c22425feca CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bbdf6c-3d6b-47cc-bb3e-9ea2bef9c7b2 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d128f53-df7e-4d9d-9342-566eef53a060 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5960f4d-a164-4b27-a0b5-6bcb32f0def1 CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d9e9bd8-55ac-4e41-bd91-ed975dde3932 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc0cddb-8cd2-4f0e-9490-5ebf4b184ec3 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fecfde2c-e57f-4969-b211-ab17ce7671b9 CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d94083-af4c-4c9b-af97-90e7e0f911a6 CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f053a57d-c747-447e-b83d-9963c2fac0cf CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa0154c-31d1-422e-a6f4-4bd833beb7dc CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ffa97ed-f03b-4fda-a01c-37c380310caf CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d368b050-7922-4173-a7cc-9b5e0446e75f CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e622124c-9e75-4773-8383-e6dedec06723 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335d6d45-8771-40e9-a423-2a21646ae07d CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d67a201b-4772-4be2-b2b8-813b7cc4db8e CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ba27a3-d06c-4c93-8d9b-bf859e007dd4 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c8768a3-bd21-47f0-bb14-66544944afdb CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b21e63c-e4a7-4223-b4b4-ab8b72a54c00 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d2c4fd0-064c-432e-8cb0-e81669ad6cf6 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3932313-2f6e-4a9d-9809-e7218e5255ae CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d45e1759-17c7-4f16-b9bd-6dc52df01113 CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557e2304-49c1-42cb-a3f6-043482d66ef6 CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bbd42fc-9bb0-4b0b-9f1c-4f01733a9afb CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c77e958-71d3-44a3-b9cb-085005676028 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54527d95-bab2-4980-bbff-e5741d680376 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10323c4-daf5-4f1f-9bb8-f31be80541c3 CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad9ad9cc-65a9-4c18-9eaf-3f258f4106d1 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad55cf7f-d8a6-4b87-a990-e667b2a40b6f CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ce43dcc-47a6-4a29-ae9d-1d212fa5bc4d CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e129cf9-026c-4c45-8585-e0512302e82d CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e385722-324b-4b57-89c2-2d204c67e4ee CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a1abd2-8c12-4d58-a2b2-a5c5d61c1266 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69aaa2e7-060f-42e1-8934-f118c07ea735 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2917e723-f26d-4363-b43e-5fa4f360344b CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9cf9f47-efa2-4505-8b7d-344a75f9f597 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df084904-1bd2-410a-83f4-3abd2bfcd06d CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 306010a0-b556-4997-8601-8e253501f47f CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c582499-188e-4936-9bd7-de94cbb34216 CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e5062c6-bfa7-4d5f-a43e-91b9fe0f9af3 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4e61e3-0550-4106-8739-7ad35ad689c8 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d42ee096-fe45-49f1-a41d-41d50eab7d0e CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646179f8-2da8-4471-bcab-d447bb8f065c CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e08651c7-a94f-4704-aa30-5d1a3c93dc66 CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85d422c-4cd2-4625-a8fd-91f71dfa2ee1 CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6cfe0e2-a73c-4809-a49e-89499328d615 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774226f9-82d9-42db-9b9a-a19989003cba CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4d2d0d1-5350-4c54-9bdc-2fe603b6ce24 CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ef6090-899c-42d9-953a-2b2f22a2871b CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a968876c-7ddd-45c6-a018-e70b7146b13f CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4cc07a-3fcf-4af5-a220-0e45087e7b4a CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 563d0d5f-0fa1-4f5a-b4bb-72ca310ec28a CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9cbfc40-3944-4f5e-9286-49813f46be28 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f80eff6a-00cc-48a6-ab56-a933c061b499 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e595581-97de-4abd-b55d-083895a7a7c0 CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32b2f27b-cdc8-46f5-8eb4-3a71532cd8ac CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432f30a0-e178-428b-939a-21eddc47e0af CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d23ddb3d-7861-44ae-974c-8f4a0bb6e8c7 CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c44bce-d306-4c1b-9535-9a1cfad57dc5 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d866067-f62e-4666-95d7-15001f38c4e4 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f86ae91-95c3-40c7-9997-6129748b417a CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c70109b-551e-433b-8758-5eecbaf82a80 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e9d005-7c1b-410e-8d49-b7205351121c CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba6ae58b-e1a1-4d26-b87c-de1d3f44086f CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8dd13e-a8e8-4ada-aa22-c4d28bbdaf13 CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 465386e8-0fb4-44e7-bb8d-d80276b15c83 CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35862a0b-8e0f-43db-81f8-e41146a92952 CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen add6cf63-3047-4884-9c49-81f5114269ae CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66552849-1402-497b-84a4-28a79a2b23ea CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9e74e13-f3e7-48c9-9d5c-a7315f187bbf CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e075eeeb-75d7-4315-9af1-e5c856da58f7 CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62e59605-be94-488e-bbcd-7b8fa15af9ef CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f2b224-2bab-4637-b400-8fb3c5016eb7 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62812133-d700-4b4d-b147-539bc709fff3 CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd4145f-071a-4e1d-81fc-3e4c9d2de48c CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fa07841-6c7a-48a9-aa8d-a41c8be11350 CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461ec532-5c2d-47f3-8872-cff2c1b90acf CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9f09cbc-c4b3-4e5b-b7bd-4b9c28daf7c3 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6609ad-419f-47cb-8ef7-3c195b8d79cf CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbe9aa81-dff1-4494-900a-122d65924a8c CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a20b22b-322b-4841-bea1-07bf89fe36fe CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f6d4cb7-0ccd-4275-ada5-a04c01058a21 CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2613a93f-e514-4f14-8457-d8eef5ba2608 CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dd94d68-9f23-4406-bf48-1e2942355dce CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19dabbc8-ffb2-4491-93c0-1bb6aeb437a5 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 848524a6-3ca9-404a-9f0d-04f685f5881f CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5530ae-306a-4e95-a4ed-c32cc30487a9 CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 237bcb02-9c13-4f9a-944a-0f48108fda31 CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cae9d0-60b5-442b-91cb-dfd2a6045445 CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cd6aa37-596d-4ac2-9f26-24e667a3f5a1 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb26fdd-2c78-43e8-9966-279550ae5519 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebcb9098-5850-4c1d-b9e8-ed8c386353ba CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1cc50f-6f60-4dc2-861d-6201b8e8d232 CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe8c7f77-f50a-44af-9c04-eb15db7adf38 CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 212424d5-1e0d-4c66-b96d-4b65fcf804f1 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea74f022-420a-4ed9-ab61-33f5ba45ee04 CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d974919-befc-4693-a842-97f4b65babfb CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc6ece50-3177-466a-ab08-484c0031b27a CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fe83b9-7584-4439-98dd-60a6ef87b364 CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8724753e-812b-492c-a7d1-d9c972e84cf0 CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dac53a7e-4808-4a5b-9d43-56a8f2a64396 CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bce2c9d4-0ad2-49ab-b773-8a30288c64cf CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743d5e34-8101-4d3e-aef3-055a5f2f9601 CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 240602e5-1f29-4160-8a05-127b4f4a117f CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ddb5199-8cbb-4995-963b-96331b4a7882 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2058d63-2277-4562-9b89-3ba9b9041f9d CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8838fb-2300-48af-b763-6c278085c34a CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6616a757-f34f-48cf-a2e2-348be3ca3d7f CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e31955-a08a-40a6-93ff-dc594319c806 CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 375ae3b7-a47d-4fab-abb7-6bcede4817c7 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274f772a-1acf-4dea-9b72-eae177c37518 CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 016be915-b63c-467f-8fd9-1b581f29e2ca CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e686f1d-4109-4d93-9b09-a8de449e69b7 CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e5a390a-dcdc-4900-acc9-97816e4275bb CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc7aa13-44b9-4e0f-845b-955cb532e4b9 CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfd90179-6990-4b6e-ba9b-1da8293853f3 CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee3fe41-6a47-4f34-9b33-17252a0238c4 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dc2302e-af9a-4a7e-a24c-1c955fe76dab CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948dd57f-d5b1-4c49-813d-7f14239866b0 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18546d7d-4d06-42ac-88fe-0af407810fbe CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82fab84a-19af-45cb-984e-5c8a8a9284d3 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c89b139c-b68e-4f0e-834c-a9edc834cb89 CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8ed7b7-9969-41c4-a93d-9c575dd6f4b8 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51ed1c5f-4a87-4d65-af35-fc0102c8eab5 CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2945b282-8ce6-4def-a8eb-4cd339a64fe3 CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16c6ad5e-050b-457f-a2d0-5e2dd7679a17 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abcebb88-6fc6-4d90-a997-a90e47db2532 CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 519f372d-bfe0-42ff-9344-fa21ae2e14fb CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab5ff3e-135a-4a51-a3fe-438a5d083fb8 CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da2b6247-4118-4071-a298-6fe58ddece4e CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d517bda-2c99-4ac7-b67d-e5e99560271e CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34e62072-99bb-4e27-8419-451d8e8395a6 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c1c358-f2e5-4b67-ac46-76fbac65302b CLINVAR:1115091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c59d4f50-fee7-4e7c-9379-6a4e6bd80393 CLINVAR:1115091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5531f43e-7458-428b-8aab-e154dfe2a315 CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90866fe9-01bd-4172-8244-e0229352f4cb CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c693222-a242-4a14-bc9f-8808ad65652a CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 267863b5-7166-41bd-ad77-b6557a283042 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9c35d2-bab9-4540-add6-2c1afb903dc5 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52277c7f-3ae3-4c2f-8e7c-810a7ec578dd CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13472dcc-3ede-496e-9941-7284f671a153 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38f6a80a-5304-47ed-859a-141983617caf CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e8def0-0e93-4168-b424-62b2bee9e091 CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a6f1b60-dfda-427e-8d9c-f2ed89bce7cc CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ddb6892-6961-4543-8e49-5d16302c0cbb CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69844439-22d0-4918-a859-7e5a1bca3f7c CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a0939d-4fc3-4ba6-a157-f6c55a02f983 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31f880da-6af1-47a6-b11e-3a9afe66275c CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845f914b-74ad-417b-a138-0c5b7036a0cd CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dca1737b-cf3b-4af1-bb0d-1720d291a1d9 CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a9a957-cad1-4da8-bd58-de690397c89a CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bbea87d-6416-4007-891f-82dd71519887 CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbc5840-774b-4b06-8646-6b77c7bbf786 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad326410-31b5-436f-8473-e2e7062ff8d5 CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c9ba1c-49e8-4383-9a0b-f9c6aa42c04e CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 812018e5-edc5-4653-9df5-b7de9a8ab371 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5489780-e2c6-418d-becb-c6600965990c CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee7534a9-f014-4d5e-ac37-0114e9973308 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d5e347-aeb5-43b7-8f93-6dfabfd6b3ac CLINVAR:1128874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42ee8804-6bf2-4a30-b041-7ea8a3a1ed00 CLINVAR:1128874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1e2469-0e1e-41b4-b0d7-a3541d373b69 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97de021b-b54c-4f05-b44b-84f6c68de2d8 CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6492521e-ae4b-435d-a7fa-b6b5d98c42b1 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7291c66c-2638-454a-9091-8f1db1494754 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd34475-1fcb-4f3c-93b8-11311d166970 CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d00e7ff-a487-4763-a498-95c926efef5d CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e090e7cb-c68d-4442-84dc-8a1bd77f71f0 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ca72e7f-0bf5-4c7d-93ee-8c83d31b536c CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40914ba4-9464-4b20-884e-7f775c6bf54d CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bda1f159-38a9-4f02-836d-9daf85f76819 CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bf09d8-a08a-4686-a2aa-af5b79550466 CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21506f7e-487c-4b75-9f3b-f307c70b8584 CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953cb993-9b12-44b0-89c2-5d4ed26604b8 CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0969b1e9-7e71-42cc-8da8-520bdad18e67 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2dae688-a10c-4c23-a676-51c599510e1f CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35b017d3-5918-47bb-93db-ba38667cf982 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3872e2-ff54-4845-bc0a-599d9cf7df9b CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e34199bc-c19d-408a-9de1-4c8c072b6843 CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0ed9f2-2198-4c1a-ab60-2c8e80325b2c CLINVAR:1097518 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a2ed68d-c354-41dd-b3b2-ae5a06f8993a CLINVAR:1097518 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe1e0ec-387e-4d64-a585-5ecfeb862398 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee93dd87-47c1-474e-aab3-47cb888c2c3a CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0c2885-204c-4054-b2ce-58dd815923eb CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b50e43c8-97a1-43da-b098-6c3583b42559 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8f6975-0984-45bd-ac0f-390362cbb746 CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0b64616-48d2-4080-ab89-54593c3df15f CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0685db64-515c-42ef-ad4d-46a0a11e491c CLINVAR:1094989 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a764b04-2236-4cef-b900-33ae2eec0b49 CLINVAR:1094989 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79aa380c-6611-435e-8ecc-53f6bd06f613 CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e292997-571a-4278-bb14-721effe7c94d CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b66fe146-b577-41a6-a0ce-2ddcb7425346 CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32636ed2-8658-4b5c-b056-e267ed9aaf3a CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478b4c9c-345b-4321-bc4c-555e32b4a3b3 CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb6ddf5a-7f40-499e-9419-d8fd6065f2dd CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72419b1b-64b9-4456-91b1-26fa1652030e CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f5218d5-90c4-438a-966c-9e28cb2f79cc CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d299e84-a57b-4b22-a811-6df01332379d CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7263cbf7-0054-415e-a8e3-4053f396322d CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c08a84c-049c-49c1-bf9f-70339e2e06fc CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0760cb12-d1b7-4443-bbb1-63507207a8e9 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e28c92c-ab1d-4456-9c1b-cfea74256344 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34ab18dd-a5c7-4ce1-b7a4-f42b3b2ce25f CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303fc0d2-2ae1-4706-8f0f-70628d12315b CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dc8007d-fd92-436a-94db-2a38824d3c56 CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5009af09-8da3-445b-920b-f0841ccfd80b CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48f2d0ea-31c1-4ea5-a409-3ef64419b793 CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91a24fb-906a-4bd8-9efb-310251de0371 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b80b5f-ee69-4056-b57e-ca68d88f4a8d CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21894529-8aa6-403d-a227-63eec4d42d24 CLINVAR:1156194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 599b028d-1571-40d7-a0f2-8e1898dcf464 CLINVAR:1156194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453fcb0c-0f39-45d8-9024-b46542f39caa CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 282263e1-ed51-46d9-9ddc-5bed1aba8895 CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4edf0e7a-1b18-40eb-892b-fc52a8cc1f5f CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dc4ab2c-b60e-49af-84dc-9128fa721c8f CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e804cd9-5e67-4a73-8e61-e5977f84281e CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3e9cd07-79b9-4480-acb7-34195dd83dbe CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6de2a98-5796-4761-8781-2a6daea69cbc CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 055b23b3-1658-41a2-b9f3-5ec658ac1e4b CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f91475d-aecf-4bbb-82ac-58e534df2c31 CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f74a98e6-b25c-4898-83ee-264f193fc337 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e312c93c-1661-4050-a7f4-9bd81d725ee2 CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e73173ab-488c-4595-a932-aeab613f40b1 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc5eb23-9f7e-4039-bec1-3af0510e500d CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bf48cee-3377-4e97-90ba-203b2d7db7fa CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be37acad-f887-46ee-8637-90e950adee6a CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62ed0b10-99a5-4006-b25f-a57520c22bfb CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 368e2982-f54b-482f-b86f-4b50fb597f6f CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32327cf7-9c36-4b24-acf1-d42a7a2d53bd CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db10972-6e50-4da7-8c1c-1e226aa37106 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c55a889e-c611-432c-a5a5-65285a4984fd CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba307acb-92d4-4014-a8b2-faa355c16448 CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae214082-c150-44d5-8ddd-7c9139d2a9bb CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e9b034-0a90-470a-9226-279c592dd0d2 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b73c9abc-6d34-4449-aa2e-f1e07cfec7a8 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec4d332-b3da-4025-b8c4-4a0a604d5049 CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 794237bd-6982-4c32-83d3-8d3998626522 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd1654f-6e86-4baa-9f8d-45802c9099c4 CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9dfb075-fbfb-4f37-a9ee-fd2be271a28c CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9912d501-0909-4e33-a5c1-86bfe6300521 CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30874630-637a-4b29-b9b6-5cb58a4d2ac2 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2b259f-0e9f-4295-ba9c-2ff6f0b66344 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffccece9-ea0d-4970-92d4-8f9bc3e4e270 CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad753c7b-66f9-4cf9-96b9-f55c8f6344e6 CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 497bb467-073d-4794-9b15-c4f1455c88d9 CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec09048b-2d9d-4c18-a204-b39c158eb383 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb88a981-afa9-4735-8fb0-46d081734294 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d35aa07-b1d9-48a5-9a67-ab4855d55347 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bbde95b-ebed-4f76-8f07-6e9901679284 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382846c5-ef70-467f-82e4-bdcdc88217e3 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aa04eb7-360e-4397-b505-45b11b97cc7e CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5c1c4-6e3f-4ccb-88e7-a0b50440dfa7 CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7154f1ba-f244-432f-8553-0bc690df6fa1 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f11ed25-7983-4bce-afcb-068e2b804c6a CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28bf439f-4fd0-4e33-baed-0feebcf6f088 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8922b45-8144-4616-a766-33d2b6791d1a CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5967d196-7f39-4f65-9fad-406e6ed12fd5 CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf80ed1-9f43-4861-869a-0d270a82707a CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8faecc1-6b87-49f6-9f2b-4ee4441a2840 CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0230d617-6b2a-43c3-9ffc-63406ff65bec CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1564296c-b273-4d68-be8b-bbd5b7cf9f4f CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e650cd-b376-47f5-b623-14716d62f76f CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 034d0d2e-f0b6-434d-97b5-56ce456a8318 CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37359b50-c235-4f0e-8394-a29242814772 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 743eed62-70c4-49a6-aa0e-e7fb6ae959dd CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aca3c86-ef9f-4f00-ad3d-e3a37293911a CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7463748d-3163-4052-9c9f-57e27400af4e CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e7ca99-3d47-428a-8a63-9a989fd8458b CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e25f91e2-2030-4d53-92b2-decf45e259a0 CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b142df-ffac-4512-824a-718d475c5a72 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88a3ee0e-5dc6-4045-b1eb-0ac5d55e7071 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf08342-2575-4b84-9663-974ef2f67beb CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63665a37-d8d4-4d73-b560-494f3cc162e7 CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed6cbaf-b884-43b4-9dd2-3ba9f53edae5 CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6181196-482f-49e5-9836-d09ddd716e93 CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca58722f-2531-45bb-826e-b300f45b3484 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8466471-e181-4f44-be5e-3066eb2d625f CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab058838-ac85-453a-a7fb-2d0095b63352 CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bea3fa7f-1c13-434f-9230-18ffdc149ad4 CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3968dda-0d60-466b-852f-f190be76a43d CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12ae8572-09cc-43df-9d73-0894d7707720 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a4aa83-7dec-4eaf-92fc-f922a432b499 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6097a2b-480e-4905-82f6-b1feb15fb5f6 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2255a81e-585f-4990-8a74-874703e53d1b CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f147c6a-389f-4020-bcbc-c599fba451c2 CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc19464-9d39-494e-8930-ecd9b367be02 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 188fce72-fcdd-4a02-8fe9-2422af0890fa CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf4e1fd-58f1-4c96-8ec6-e24bcb4d7fd5 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 603330c5-580d-471e-be1d-b4aaf9d761a5 CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6427636e-0c8a-49bd-ad40-7e99d7c23174 CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caa4d9ef-170c-495c-8ea4-6e761c962fa9 CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a7fff5-fc04-47c5-ab7c-da52aad58521 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a60384dd-9295-4c3b-a746-c57af2f16ea0 CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01497591-1d4f-4b16-8871-cb018c9ee4b2 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ee8f3a6-d26b-49a9-b7a8-b419fbb9b0bd CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425fdf2f-aa46-462f-ae3e-ae68d5e7d392 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9e61d4c-1512-4a66-91f4-c155f88bbb8e CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77dcd5b-8ead-442d-bfe5-d4d1a15ef1ee CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75caa821-dbcc-4b4d-b192-7fb8198a5209 CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732d9135-98b9-4da5-9262-3e8dfe461f80 CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16ac0beb-550f-40cf-9d71-ab70ddbe2e0a CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9f9328-7ce6-49b6-8ba0-876c1b5584b4 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5787b570-2c9c-43e0-beea-ad8bf19f40cd CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41502001-53f2-4128-8f1c-7db934194500 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68bc369c-0690-4a93-9ec2-f2105d81a44d CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d2e96b-6049-4e47-ab19-0138d5662aeb CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e05cfd4-14b6-48cf-96f5-da1384db1023 CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f458e4-559b-46e4-8623-b6dc2b938d57 CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b79fe8a-cd1e-4a7e-bba2-155fba89fc44 CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b15deef-a4f8-40ef-b9d7-5d43ce5f21ae CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1aac15b1-c8a4-4047-900e-fed05a3c5de8 CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c678723-b139-4b8b-8e01-fe1c367fc2c4 CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f33f5064-dc85-4833-9c9c-fb52828b1515 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2828928f-1b16-46d9-85c1-bed0c6de96a3 CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2828ad4-8b59-42e2-9252-03d88a35f38e CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479bd05a-864b-4575-a564-18e82949dcb5 CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34282511-d25a-41a2-a1fd-1ee60646b659 CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eaa544a-dabe-497a-b408-76e123881ee1 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8646a879-e76f-49b0-b0d9-556ce32a54ae CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af48bf32-d26b-4605-a6ec-02be4ba12df6 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61dfa66a-9be6-4e2f-a228-b613f598f50a CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf08679-44cd-49b6-8e27-2913205ed418 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c1a1f45-9c8d-4898-a822-fb036d11f21a CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d898895-1c9e-4c94-aaac-1f44ae752bab CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16ce1de9-e299-4900-b8d4-cc95cf348682 CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6e6da3-a5dc-4b54-881b-e4b9454dc7d5 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d4382c7-ddce-4559-9f24-66dad28b3fd9 CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537c06e4-d2aa-41b5-92b5-d4dd35808725 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b06ea496-a61f-4d52-877d-9e0b551f45fa CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a272036-5f4a-4635-a621-215a3f04168b CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b03be4c-6c23-4de3-b3fa-f7d390ad448c CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d4059a-f556-412c-a9b6-7578c71fe027 CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04629c65-b4eb-446d-a37a-7efadb7762f1 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e11792c6-f4fd-4b70-a365-8ef82f3243dc CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cb5428a-67c7-4376-80ba-97f7ec3266f3 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf505775-5e76-4667-ae04-28c7f151462e CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39f9d172-00d6-4af7-8559-e6b1197556b0 CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da9f565-dec9-4ff6-884a-40a0e5e38615 CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 703713fa-c3c6-4571-bff5-d5f2987b3788 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f8fc8e-2860-4df5-b3c5-f739daee0279 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e69b3a42-016d-45d1-b524-bd564d0f6245 CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1530988-df1e-463b-836c-5d4936429971 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3482d1e-173f-4aea-a29b-afc0782a6a8a CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8132724-5e27-4b5a-819e-b9796d3f1880 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dae3a689-5faf-4d9d-b545-9700f834c2a6 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1cc56a-e3b2-4c4f-8e42-c4a1c8a3b1a7 CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 626abc28-f860-49a1-8550-e901f97dd032 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e515e45-9478-4b12-9140-be8ea276185a CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e2d0642-3853-4c18-ad4e-b74533aec168 CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d62dbbf-fc6e-4e31-80ec-2eda2752ff83 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b004a638-d62b-45ed-8bae-230f2ae48cf7 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbfc699-b421-452f-b315-0c8c55e6ff0c CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f5a1244-4489-48fb-9569-c6ca3ecb2dc1 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c55f6c-9217-4e81-8ac3-1aeac9fafa6e CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 007867a2-2894-4f92-a3b3-2083d1989f2a CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df9b8be-4c76-432c-8fb0-5aa8d15c1f1c CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c4fd7a0-94a6-43b9-8978-998eaad89a9c CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16884b18-619c-41df-bbc5-fd5bdbf2df14 CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8eff5cb-ab45-4fc4-b761-28456fdc247c CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3037a7-ff40-4db1-a63e-2ba5e619b67d CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7504bad-44cc-4aaa-937e-e523b21b0983 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ee7556-9478-445c-910a-4710a70d9d44 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 455cafde-3116-4b0a-b61a-2fdbdaa36d89 CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb6e994-0711-4182-9fab-5c7315f48c1d CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7dae196-bfa4-4576-b952-c504723aac1a CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d12d731-d30c-4921-ab46-a44af228468e CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 831b56e7-bbe4-436b-b342-2a344282f13d CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09553e21-86bf-4f51-92c4-0ee3bf8388dd CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 055c4689-456e-4248-8474-aa8e285b8911 CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58fbb94-3098-428e-83ad-f3f0cb7641fb CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5cf08d8-ccdf-4f40-a603-506c45829272 CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6354ca-3d24-4446-9a96-f99e673251d0 CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27959ba0-c967-44b0-b8bd-5011cb5f16f5 CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabff827-879b-4720-8165-c39fd3e76de2 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d15601a-0bf1-4d1d-a123-dce9baa2d69d CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca5f439-18df-475f-8f9a-5a9d1ccefd82 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f291acb0-f656-403c-9154-b80859b50c05 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbf0f3d-7b9b-4075-8533-f5f9ccfd98d9 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c30c31a-e005-40a7-899f-beffb05d0457 CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9ac5bf-25c0-4fe3-a6da-a780b23995a3 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1a4bd91-aa14-417d-8ac4-b96b084e96de CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f609a0-f990-4755-8635-1ca1ae1a2db9 CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34052ae6-d563-429a-8d5e-198d2e1d46a6 CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ad99c9-152e-41b2-a73b-84919e80872d CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f911a29-833b-4ddb-8e14-8398805d90a1 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df52e5a-7f2a-4439-9305-9091c2e8bdf2 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 802168c2-7c23-4ac3-969f-65dffaf9d877 CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c997754-b95c-4416-8786-14eac4fbb7c3 CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a4dddc7-e7ab-4e41-88ba-d226a8df6253 CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e13c76-75f4-4180-b40a-15348b7adf1d CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c1d095-2ebd-481b-ab4f-6ad82be69141 CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597ee325-dab7-4fd9-976f-509772d0298e CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76c7054d-ec7a-4c96-8692-ac320dce158d CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d0ea44-70df-4850-9933-8c5cb78ad198 CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a85400a1-bd62-4a3f-a032-ad5140975ad8 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec76c7ec-5a89-4e57-a0cc-f2e491c0edcc CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25334002-82eb-4ed5-b80f-ee87f7b91e79 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ea2ff0-13ef-4f39-b475-8fac231928e8 CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11240678-80d9-4609-b997-c911fc83f199 CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97ecd5c-6045-4f94-a581-90bde8a850a1 CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f491c5c7-802b-449b-b3fe-ae0f525033c5 CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb7164b-b3d6-40ea-bb93-ea440dd7c316 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ff8ec2d-a6e1-42ff-9cda-d37a77f1741a CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1f6df2-bc61-415b-83d8-22ad994d640a CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45eb0e57-0b68-404d-af07-734226e9e36b CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b80641c-ddf6-4f3a-a2e9-fcd8901d94d1 CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13b140f0-21d2-43fe-9ba2-068007f2cc02 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6050d9e0-220c-42ce-a740-e756b8caa2b2 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff79944b-6df4-4d8e-b315-ddfb3c1adba5 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a89342-bdb4-4c3f-8702-bb6b930cdcef CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1576570a-9f2d-4779-a132-faed605cdcc7 CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2376e1c-9063-406e-86f5-fbb67ed7776b CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f6f9101-9504-481c-9116-12b5f25d84c9 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5662bf76-d1db-423c-9d21-76cbfd1dd454 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 419edeb4-579b-4a9c-b6fc-d31c41952f1d CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907369a2-a022-4d49-889f-ae75d7ad0730 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a5173b7-e0c1-4165-87eb-2711a9241138 CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8ef29a-af38-4832-bf72-ddafaf5796e3 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22451f37-70ba-40c8-9483-faab070a3eda CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81fc31d7-3ce2-4c38-b60b-c196d7b4137c CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b5fd209-f4ec-4169-826a-a87ee3b8c794 CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55d19c0-4002-404a-9845-3fc1598bf3f0 CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2473af2c-d33f-450d-a35e-83c4ca54ec53 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9ee434-d2b0-43da-882a-2ebc5a349391 CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a3b3c58-ce7f-414b-9377-562c85daf215 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434cf08e-fcac-4a31-8e54-f83bcb46e568 CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dd055f4-6db1-48b2-b2cf-ffa3abdbf8ea CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ee8cbd-85e8-4667-aaca-d2d98ea6e8ec CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49900aa3-507b-4229-9583-660d9be60acc CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d06f039-20d6-407f-a5b5-048574d5be0d CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61e7f41c-43c4-4ddf-ab72-6e261d92b33b CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8320c3c9-79d3-4513-a7d7-d3667d5e6fb3 CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41ebb19d-05af-45e2-9432-693683ae7ec4 CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8ac02e-a06c-49bf-98f9-abd1aacaaeaa CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd228ddc-1e34-4254-ad31-2197cdc12530 CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ed70e2-b130-4b06-b956-2fa6ac74aacf CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1c65cfe-be0f-441c-b09e-a720a00b708e CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a1b082-090e-4cbe-9dd1-7a566ec0cdf1 CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 011a647f-8804-41f6-baf9-109acf886d3e CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9435c22-33a2-4a66-b160-c4bd76ff0165 CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6e974c7-721c-471f-bc4f-47d6a3a36f6b CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0312c1-fbe3-499f-856c-69f6aab87659 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 753af5ec-dc29-4c1a-9e12-c6c9897520ea CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b544ad4d-da3b-46f5-a557-659a78872587 CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b77cbe-b59f-49ed-bc03-abee3049b04c CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a407e05c-b509-4ec2-b69b-fde5a53971b4 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09e78177-e503-434a-a0a1-645576db8f7f CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ee4677-0a49-41be-ae88-823ea1c89cc9 CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a05bc359-1db8-45a5-9c46-8c48b86accbf CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87fce08-1a91-457a-be4c-edff05aa786d CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c05d2d4-646a-4d4e-b6a3-2244335765b6 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08231091-7007-4a4c-885a-c79bf2f94f70 CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fed060d-860c-4287-bab3-38cf35088cd3 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f75d42-cd6f-4d13-a888-2197ddf7b661 CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60834879-3148-42ff-96a4-f4ecae6b84f2 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b29fb2-c667-4f11-88dc-5c068e96c7bb CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d47463d5-d971-49bd-96ec-b678eac56b0d CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83242ab5-f785-42db-8d31-aae9f7e7a08e CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 377433ee-3a80-4ef5-a03e-b860cada083f CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cdb2214-b31c-48e9-936a-941dbeccbe96 CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5664e99-0cbe-479b-824b-ba50e962417a CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c1284f-1d4f-4d8e-9278-dda74250c9cf CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d324186-958f-43f4-96dc-28153aff24d8 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3316398b-3ef7-4b61-8eec-c1468a598269 CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a756f6a9-17f0-4ab4-b6be-89690b21ec75 CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6143ade-ffa6-47cc-9e43-a95062b09219 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 351963af-fe84-4e55-821a-dffcfaf8d38d CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a2d40e-b40f-4c2d-b1b9-c4f664fd5b7b CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72a06728-a041-44ce-8893-6a8751b8734d CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becb0312-13a5-4692-bd51-04a58f33ca6e CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7f2dd88-6b1c-45b1-9a35-22cac21a7113 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16cbeff-ffc7-4b21-9a15-bd1b82a3a5c4 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dfde8bb-1416-408d-8485-c126f55d35cd CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ced51c-8e03-4c82-83b7-98ea527e22cb CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c6eb756-b71e-4a34-8296-93a1a99dc24b CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb87f5fd-1340-4a32-ae55-9364d5e30548 CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2deafa21-caaf-4688-bf5c-229a601a9ab9 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31ebabb-8ab2-40f4-a5f2-34b757bb36f4 CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8af29669-36cc-4e80-9db9-20e100742a32 CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c4ff26-78ca-4235-895b-7a6365af3b9f CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f69c3c63-57d2-4a58-a1c1-63b86229d58e CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56fbf80d-f428-425a-80e8-f3996d8d0843 CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc1b4267-d97d-4b0f-973a-c9ba7d0767af CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0102e60-deaf-478b-af73-6c69df7b961d CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c698a427-3a95-4070-b839-eb5d133b7ad3 CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e32f8e-b5e4-4552-9d0b-e4a1d3a017c5 CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bc9c6d6-09a8-43f3-9949-7dd2231d5656 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2c40de-935e-47f3-8f99-7d568507d18f CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 912128d1-94ef-484f-a41e-96c1e28964d1 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8c371a-65dc-4a46-af66-1f6bd13b3828 CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d2b9698-56a9-4239-a415-74389352d0d7 CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95a3d96-fd49-424f-8d57-8ec6c53cdbd2 CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3aed5ae9-bb92-41c5-ab40-81b1d6002c93 CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6978f4-88ec-4810-8d0c-35ef0c2f2be1 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e65fdcfa-41fe-41af-b97a-9399368b9b9d CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e2cfb4-fbba-4907-a495-af2c6be74479 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79295ac1-af4f-40a6-811d-c5cd74f659f5 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3113b4-224d-424e-a831-963cdca82a95 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 462a0da5-9fd4-4ffc-afc4-9a27e5b907a2 CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6958f96f-e9a4-45fe-bbe8-5340f9836f70 CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5beb8996-3ad6-4a46-976a-9b361a4fd27d CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af180bcf-0170-45c6-a5c9-6cc8353c1f9f CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83981208-4fed-4006-ae0c-8b85b508c8c0 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9bc09c-bdcd-4c54-a975-36b403dd31fe CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e4d0623-85e2-4dd6-8b23-3285a3028afb CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a277610-a55b-4390-a3f4-34964590e7c7 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d01000db-9aa0-4fe3-bf5d-063ec53e1680 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff168ed7-fa8c-4a4c-9054-4abc9ceff2fe CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19491955-4e65-4eaa-a053-a727a6640d5e CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8197dba-dedd-4034-bcc6-1ba2dd81b183 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8aac1881-0ed1-4670-95a6-afa86a31eea2 CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af551a92-6536-4c74-93c3-ea6e476a1eb5 CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca21baa7-1a78-4d86-9a39-b5e6779cb7f2 CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ec49be-094f-41ea-a2e7-317c37504225 CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a19be88-cbe1-4409-98d9-ed435dd4b518 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689847b9-c70e-45bc-9f7a-834c40c0d8eb CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a9f72e1-ffb2-4e0d-b684-12ceb0fae47a CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a77fd15-378d-4451-8928-c542419702e4 CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9da80d18-44fb-4d7e-ad88-0bb9f8aeaf3c CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d678305-53c7-4c41-8819-dc5f352bafda CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc87fbda-e650-4850-a9eb-50974c882003 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b70ba5-b309-4a19-8ab1-bf0a0608986a CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eebf36cd-baee-47cc-84ea-aaf81409aa3d CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939aa723-bc46-48fd-8422-2decb76ce8cd CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e7b7716-4796-436d-926e-0f461dbc9e1e CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7235e45-0fa3-44b2-84d3-68717a2f6c4f CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b99d6aa-7ca7-49a5-95c3-21a3a3dbca04 CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7e0d79-cc08-4c98-adf6-30ea819f537a CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa113ad6-70d4-4d84-b951-c37c0f22acd9 CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2012225-3f93-48b8-bf43-5f88b7055a4a CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa4e772a-ac27-4ba3-af5a-0a1ec9b8f661 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d391981-9e9e-45a0-bfe5-3fe5d68ab94b CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f256a27c-930d-4bb8-9b35-70bc03cf4e18 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a14d97d-d6e8-405d-a761-8c5f82e8993e CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beeeb149-4ea5-400f-8266-f67986f17fef CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6938b1-d265-4ffd-918b-0e9e621d8a8d CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6060395a-b2af-4245-ab6b-ee141f10cd6a CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57236deb-1551-4075-9fdf-9f2c5150d710 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fbf6ef7-1cab-4ccb-b79e-7de211c5129f CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cda399-db10-457e-9a48-65437a2618b2 CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8811b5f-d687-4b46-9abc-863fc02fd6a4 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770d2c2c-4d22-4210-823e-9aa621dadcc5 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee3fe1c9-7002-4a3f-87e8-0a36d45793f0 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be12759b-01df-44e0-8c6c-3384a6345a7d CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85296d5a-9247-49ac-acdb-878b9b88f76b CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794f1487-1d5f-4e3e-8455-61c3f41809e7 CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c85bfc5-770e-4b2a-8c04-7eec9d192b36 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc38a5cb-0470-4451-aa8e-bdf2e988932a CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8e650cb-4189-4f49-a36f-af9fee6e204b CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d554a5e6-c171-4238-8cea-9aba45faa1e9 CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bc2a980-1098-45ba-9abc-e73b73dcf43a CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa231cfb-ddef-4edc-80e3-e6f19630eff7 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f2d9f13-02e6-4bbb-9685-66fe3fac3039 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a9a60b-0f4d-443f-9fa0-4e60a42326e0 CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e90345ef-de48-433d-807c-c6240fdfb3c7 CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e745fe-f430-4c34-98c6-5606c9b11c15 CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cdad09c-d8b4-402e-b275-ac918e7fb2b8 CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65f6412-b9ba-4115-b5b6-6de3ead0792b CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d5c87c9-7a76-42da-be5b-e68ea2aecf4d CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2761a56a-7acf-4fba-af0e-3faf090aa708 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0494b63-e7e9-4933-92db-b82c46eac103 CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918560e0-3792-4854-8c0b-328ede8e93f1 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c71ec713-08c8-4a97-b135-9497ac0955a0 CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd6842ef-c9e8-4450-bb2e-d3bd385c2171 CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97a33892-832f-455e-b2e6-95b694e38895 CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb430bb6-e132-47f7-8849-ea9ceccd96dc CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f7dda49-97e9-4954-81b9-7f825652e2a8 CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08cce73-0d48-45a2-b3b4-fc9641fc0807 CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fbc97f9-aaef-42da-b64b-68b998e065ec CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64645a32-7493-461d-b5ef-ab790951a26f CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c09e699-af7d-4f3f-aabd-591d0685bfe8 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9679fe88-2d45-40d9-8570-46febfa67589 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d643dc33-fe4f-4096-ad90-f7fc76669031 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94784c01-3ac5-465a-8d63-c3b6c9e5f034 CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a0c85fc-78a9-44a1-97db-6bec6ac49d0d CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c394f462-1436-4a50-a937-2890353d1e41 CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c963c73-8069-40be-a773-532a752f8cfe CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b13eef2-8490-458f-8d5c-a2e3eaf7c6b5 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bed32f1-7f74-47f6-9f9b-8a9306cdd2dd CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0942b196-431f-4d06-8413-2b3fa2d9699b CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43e7c55c-e608-49c2-9e9c-4bca3bd94dc5 CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779d79fb-b518-4749-b7ff-30d163338225 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78c1404c-5fa1-4d1f-8187-7e937c2d0224 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251d1ef7-c304-4972-890b-730542803863 CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d29de34f-d4a9-46a8-9648-e87657059942 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bd1314-5142-4e7d-9cb1-96de1183fb00 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3c2ae70-f794-4eed-920e-260536632aa8 CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41905ad-d2f7-470d-87e7-62a95658e631 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 751e4d2d-10f0-479d-96ef-85d3d5c5960a CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76055c6-cba2-4979-bc4c-df9f6fdfdd47 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c052313c-8c78-4cd8-b2eb-43f8c30869dc CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e30e9b-a93d-427b-8fb4-fd12c932c0cb CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 485499db-d44f-4a5f-9135-1b7f7858df22 CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c145fa26-2ba6-4315-b51c-7718b9e4d400 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0917d5cc-2d41-4c58-86e6-f1f5f5db3fb4 CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ee28e5-d4f5-40bf-8e18-cbb2d4a0c44c CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ce0af17-ea88-4052-9810-5cb59027ec81 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0727cab-a175-46d8-92fb-0b2e968624af CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62b7fb0c-83ec-4dc3-832e-dc753e6e2471 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffebfc2-2ef2-4504-b10d-5c7561bc61aa CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96e19e2d-f7ee-4863-b039-11dc9cf3dc26 CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a278dae6-f2a6-4e67-8d8a-e33ce8e6f277 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc1c792e-abda-400e-9de9-3d000bfa419f CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f794366c-b5e4-41c9-93cf-e6dc3732ca6f CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 350bb34b-bca3-48fd-bd27-09f71d9c8536 CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0050256-dd91-4f95-b711-6033f6e29dfe CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00ba04ef-04e9-4594-a9dd-3e7a71c1c47d CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01301c71-000c-46b9-85c3-94de7074d00f CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc9a0839-3c56-468c-90d9-3e286a0c640a CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fe57a9-8591-4046-9e57-f1f6cec94c4b CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 861250c9-5edd-42d8-81e7-f46ab76c4d0d CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b502c2f-3d69-438c-822e-4b35b5ad383f CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 636da41d-0f0b-4d95-8cc0-4903d444e126 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93034ab6-0e6b-4a1c-8a35-dc889a2b3740 CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f51000f4-33ad-4868-86fd-381551ede2b5 CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a7cf33-24eb-4e9c-ba9a-f86d51138e97 CLINVAR:1338110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1aa14b49-27e2-4f67-85d4-f222e33c2bae CLINVAR:1338110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26b77e8-1ef5-45e1-820f-0277d15ef7c6 CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd5f5ba8-05a7-4c4d-9a28-d4e4f836698b CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf061e3-a587-4d66-b17a-de6094b86fbc CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eee0e110-2834-4867-8ec6-d3261351333b CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4103f2f7-075e-4103-9a99-93382569f112 CLINVAR:1114376 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c1afeb-d970-4bcc-b6c5-320dfbb26802 CLINVAR:1114376 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409837a2-448f-4c2c-bd5c-0c68806ca7bd CLINVAR:1141521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e8b7abd-4fc2-4158-9651-4ff6c840e979 CLINVAR:1141521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0161c60-f58d-4ab5-8e2b-91379867726c CLINVAR:1082500 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d224e8c-5201-423d-a140-7c60989e8e1d CLINVAR:1082500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2aad23f-0713-491a-b95c-2b9d975d1056 CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9a9bb41-19bb-450f-9805-24bf3b772803 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65dd506-482f-49f4-a021-e0ae4bba5890 CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc5167d9-cc5d-43a3-99b4-ea74c805610a CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10312856-6478-4ace-8870-761c0d26f55c CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c7b88af-2cf8-4761-a0a9-655d4af4c465 CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cadd5d-26ac-41b9-8214-97950b3458cc CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea6cbcb9-28c2-4b10-8a4f-403fc0648f80 CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d6833e-733d-41a1-9205-9f6d72fb4f0a CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf5bd057-4072-4b1d-8361-253a76fe9022 CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f5d97a-0756-427c-a82d-1f1b2240f3c8 CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b21b2079-6d3c-46d8-ab04-323098062b7d CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de97462-143e-4f68-adef-f01b26b6bfcc CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86196743-2a2d-49e2-8341-68c6bdaba209 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37cbcf8-efd0-4c96-b77b-31a93311fcdc CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1efb968c-ee34-42f4-bdc9-0f79a0bdcfed CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59b49b1-2b81-4abb-b451-c3919b3932ba CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34045267-55fc-45bc-89a8-b4e84ebf4f19 CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a262e7c-444f-4113-911b-312f493abcc5 CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdd70a26-414e-4018-8856-830b81aa9030 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd11814a-a346-494a-b151-c46adea529b5 CLINVAR:760670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df887485-c4b3-4596-8e0e-bd08bb8b568b CLINVAR:760670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97db921c-3452-4a5c-89fb-dfd89b98a218 CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9c9aa41-dcf6-4259-aebd-dcf96c107e10 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a686d5b8-db55-42f2-8cc4-c51579b086df CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e75449d-c6ef-4b4d-ac22-0f0a5af9bc1c CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d765f2f-ba34-42f2-b2d0-82a6e16a0832 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c222a7a-9452-4868-b6c3-4795a26e147f CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e971288b-44c1-4075-8ea9-ba2191cc64a2 CLINVAR:1155928 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e5a57d6-c80e-4bef-a638-bd8392612796 CLINVAR:1155928 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ff24ac-c1d6-4727-927d-a6ffbcea2bf4 CLINVAR:1162089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebfbf298-6add-4f08-adfa-bb5176ef65f8 CLINVAR:1162089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329dd840-c159-4032-ad27-ddb718b15a1d CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 958837b9-8414-45ee-8148-17ab3e543cb0 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9d974d-a162-4223-b98d-77f5dba75e79 CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07dba986-c72b-4a89-b326-6f47a408b3d6 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee19b130-9166-4634-9ede-f9f6564c30c2 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 960d1f6d-32e3-4dfd-a5c7-f33a540ae9d6 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20c1c97-6523-46b0-9fe4-52f0daa5af0e CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e2b1ebb-2707-46a4-9f7e-f2eb06cecd00 CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8485c35-09d3-43f8-975d-d7d8c3534d34 CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad1f4e5d-8d28-4905-a362-78bd2451359d CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfcacea-25d5-4e06-bafd-f88c896cca79 CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02fffa47-3b08-4c53-bc21-771198eb9a32 CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5048bb2e-980b-4193-9b46-ac81b7712262 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 661419a6-9685-4a2c-a13b-fb1e996984b9 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3150147b-3a50-4ac4-99d7-1e0624654bd2 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0eb0422-fd2f-4bcb-b332-6c336c07ab64 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033d536a-7f16-4de4-9791-908a800e9db4 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 123764f9-21cb-4ad8-a895-cdf2d8062a65 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f420c8-5a28-45fe-acd2-10961d70c732 CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15a069a8-502a-43c4-99b8-006347d32fb4 CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bd1c98-8f7d-47fd-8c34-76dc0b96bd64 CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1ca33ef-d9d1-4ebf-95ef-fb52dc4d6b76 CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cbd4ac-67c8-4540-911b-b4e21c5d9e97 CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25a1be78-7785-4b75-843d-c417ec464cd6 CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a559ab4d-302f-4ec0-838f-e6d7dfbdfdfb CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ee0f543-148d-4bc3-bdff-04309c31debf CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d9e508-81aa-4df7-9171-347f4b95849a CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1965ea49-d166-46e8-b278-68686e41f611 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64196b0-f264-4a15-862a-5b68db59f1cf CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f863f31a-92f1-45f1-b654-b83cbaad6f61 CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f5b194-f8dd-46b5-ba09-15009c75cc7b CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 334ad3e6-317b-4b28-9b2c-a151b439ac77 CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4a2c90-9edf-46ad-9ffd-d2d8a00198dd CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8090c3-8d63-48f7-abf9-fdcc7d5426f2 CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab085e1-79b2-4586-b0bf-7858dc08e624 CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a2999a6-57eb-4e0d-bd0a-e9e2be316a35 CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a338e5e7-fdac-44b2-abd4-a77b54f6eb01 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 323f3f66-dd69-4859-8550-deb202b422e2 CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4be74f-c1cc-4c92-af77-03e789600c58 CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddb51551-6a03-41b1-8bba-539f6500fba2 CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8abdc3-0f94-410a-92c2-cec57d21ed4f CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1eb26424-8893-497b-abc7-aabfeab211fb CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f8a811-64d9-49a5-9ec5-f9bcb10f5a17 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7063ee22-7dc5-4f9b-a13d-a11551052232 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a0eac1-9b98-4f37-92ff-4737002bdb94 CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0abfae4-c9c1-43aa-8dd4-8da8fda498c1 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98cd7192-8c58-49b3-a16d-685600c835be CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62f8f2a5-bef7-42cc-b9bd-13e75e08a740 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4136f2-533a-4324-be47-1c375c532242 CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 838e60f0-a728-40b8-9d4e-dc72153eb62d CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03bd22a-477c-4d16-bd04-00565e4614c6 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b80e8e6-95fa-4211-b9ba-7b129427ffee CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5979be-df92-4324-b3c9-a437d0a73a34 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9301e91-0d4a-40d5-a662-f602709268b6 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c237d0a5-700f-485a-bc4f-f81e2a20ce39 CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d163a17-40d2-4bc4-88e4-954b921aafa9 CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb81812-0a67-4e2e-a0df-f5b9560f9299 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 221fa8aa-3087-4a43-9dd2-9e5de3086cca CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55081b6d-a81c-4d77-9e73-cc824b04e1e8 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1a96e50-bc57-4f7b-9234-3de197618384 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173a7e16-20e8-4044-bd51-3bf21b3a7203 CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51bce6aa-691a-440e-9928-5d854573582c CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e607941d-ef40-4cda-891c-70475e542f82 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fc2da2f-c9f8-4875-b9f0-9a12d946638b CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e60f01f-7549-4d42-be3c-ca17f7149681 CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4322d49a-96f8-4a76-bebe-1312087ef344 CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6950021-1c67-436b-8264-8db092d5dd6d CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 505252fa-ae2c-4033-b3c8-be8fc3260363 CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a477f76e-0157-4fdc-bc1b-ad3800727beb CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac2fc805-2439-400d-be75-489924ff85e9 CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40305a84-b3e8-4e63-bcb1-291e2694a84d CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aec5fbe4-d65e-4eb9-b40f-bd1772280a25 CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ee779e-4b46-48a2-bf9a-fae160dbfca7 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12668aa4-8250-4a06-b71d-f4af0564a86a CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d57005a-8dbe-4a82-b995-6e3f128f4326 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36ad392b-8786-4ded-bcaa-b13eb0a3d047 CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ec7e85-3f8f-4124-9193-63b9a6867248 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59e7773f-020b-47dd-b029-c072461af2de CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db07d51-3c01-4ab4-b883-32071c3782dc CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54d01bce-1b05-46ff-bded-47ac0e26ab40 CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67f63cf-e2c8-4fa3-975d-841493d0ac56 CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 042533b9-5e6f-4e63-90f3-70fe08bce360 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c30a61-2496-4147-aad7-e6047ad9d1e6 CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecb486f3-fa0d-4959-8bc4-6978b89de6af CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9e1ce2-df33-4ca3-974f-f5a32271f717 CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3db4be18-32e8-40fa-864a-890a6378cb16 CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be58d55-1b33-4816-ab06-fd3716903517 CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83457c7b-6579-4a2d-afcf-a458872b7647 CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157c14ab-d215-40e7-bb50-ffad35475483 CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7076ab7b-932c-46e7-8c51-d14d6b1855f8 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 614c51ea-0dd0-4ead-b17c-eadccb4ecbee CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad9aa6bc-e926-4daf-bc95-e8a14f76dc2d CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd2c8b0-e59b-463d-89fe-4de3ed59a7dc CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aac9d326-c671-4b54-a42e-e9120d53b70d CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb94d1d3-dbe4-4575-b6de-7073b756736b CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddbb896d-c6b6-4f7f-8ec3-6b32f8b5ffdb CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19930e2-044d-44ca-be28-d010f14a7e0a CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b3405a7-b88d-433b-9571-3f4fe73a1bb7 CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2efb0d2-f60a-49e0-9c57-9879361e7beb CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43563a6d-361e-49ae-80f7-796cc62cea4c CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4575977f-cbb9-4dc5-ab17-d7cce315559e CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d0d7f29-2cf8-41a8-b1f7-1908db5ee8c0 CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf9bdca-8523-4593-b5f7-1766713c0aa3 CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d20a57a7-7da9-4b02-9abd-38dbef8d560f CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fab1d73-b7dd-4a60-aaae-35503a220383 CLINVAR:1338528 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a25e65e-617c-48d9-9a71-b9e015d7b917 CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435e78c8-74b5-4c42-926d-888b478b4c8e CAID:CA916084356 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e00eabe-2f53-4ba4-ac04-4b7ae96c9edd CAID:CA916084356 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d482375-d9f8-48a8-b90a-3a17228469fc CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbc4d510-81d3-4d33-99c0-7f747b0b1812 CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb92ed7f-c049-40a7-b55b-43a11bf55167 CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecbf10c2-fdcc-45ce-9f6f-ffb2f01b2843 CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38060c48-6a05-479f-ada8-12901c5c97c8 CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8122c388-b380-41b3-bbf4-a508399cbf4e CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75533b6-8d41-4789-bfd9-60a4ead4b7d1 CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13f5f5d2-ce7d-415c-82c4-6c490a55c28a CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a92fbc1-ad7e-4cc8-8f66-5707535f046d CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a0a6355-02fd-4b14-8288-4459d706245f CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136368ae-dccc-4c0a-937f-c036d5758d92 CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bc211de-9ea1-47ae-80d1-4143429d1986 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ec977d-9e6a-4600-b13e-23cfbc08c68d CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ac6793f-c9be-489d-a018-3704619914fb CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5641ea-9fde-4b0c-aff4-86137828420a CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f298863-bded-4efe-9abe-2031fe06cd86 CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ffeb40-3dde-45fb-b23c-364f02d8e026 CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbafd47e-a63a-4f3c-9c00-953f230bc387 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcbf1c7-7884-4532-be06-35414a9221ae CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6bece60-cc62-4680-ac54-67bbbb3b03d0 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f0c4eb-981f-43e3-ae0d-a6a74d14e144 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdf0caf7-4fcb-459d-b2b3-fdac618b78d4 CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8e845c-8338-45b2-ace9-9d1ebec8d681 CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c230fe9a-6dc1-4a28-97fe-41a2a31c11ff CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e552fa-c324-4710-aa72-757ecd7e9f9b CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6f3ac30-8a75-4197-994b-cb8ab7d7685f CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138e0752-d881-4e6c-907f-2b02dd8c7a8c CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a248ce07-80c0-40d3-8588-7d446faeded8 CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873be68b-3c05-4ef0-9225-0f92cdce26da CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fe3288c-66af-4927-9bde-a7677aaffa61 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f11620d-0873-4d0d-ab57-655afbcf7d0b CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56c175d0-0d2a-4d18-8c8e-953f4e8fcffb CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c70affc4-c8fa-4919-bf8e-2bee0d05959b CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 569c22a6-4a82-4689-bb63-0e930b964959 CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18cfe15b-d9de-4855-885e-b86514b4acd7 CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cbad30f-7cc7-48f1-a34e-25ef0cf2703d CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb98a21-16b2-41d5-a902-b05ab7223314 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd888c8c-469f-4a78-9bf1-40442a4534e3 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49671d2e-2f37-4280-b0cc-83ff17ae9be8 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fca42fac-3a8a-4a4a-821c-3f0f567119f8 CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3cdd18b-66ff-4907-9574-59da23becc23 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78c5eaee-59a3-4e20-8c09-203631a58baa CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297beff3-d0c2-4672-8a90-6b69be78bb1a CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0bac61a-9524-40c0-b8b4-66be09a42ebf CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58fd8c97-9770-4e71-a569-a4b6d42204e5 CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de769593-889b-47c8-87e4-7ad8d7ec7b30 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f107ef-200a-41e7-9cbc-7cdf3cd98064 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2920ecde-982c-4681-8db6-34cbead5499f CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf89448-f54b-405b-a224-abf239cf37e4 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 427f615b-72a0-415d-aa6e-a6f14da4341b CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a0761b-d2ce-4df0-af3d-bb46a94a8f5a CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa206435-0c08-44f2-abf6-1c59e864b280 CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b06d0d-5652-4766-ad9e-22cbb86ce6dd CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cddf7ac0-1e90-4efc-bbb7-9f0504411aff CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f23698a-c460-4c85-b2f3-b086d9e07fc3 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f930a93-a407-4c6f-b94f-4f6875101ca2 CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2602d5-5453-4dd8-9abc-bc8895fb3f7c CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c014ef15-e70b-4d22-86f2-9a005b38b472 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3affc7-8602-4475-bf09-036e7e4955e7 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 947bb9ac-96ad-416f-bdb6-10c8a73f08e2 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01edbd8-233a-41e0-b9e4-5ea5318b03a9 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1b83e7b-a151-4e64-90c6-bf735c22e275 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09ba7f5-397f-4544-a509-875b4eb265b7 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 906be681-b0b0-4041-afe1-fac6f070cca3 CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd071fc-f7a5-4c4e-8e96-1ecaa8a47600 CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e2e7e0e-8a89-4b45-b92b-831cd3073913 CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40f6e10-bb48-4679-8d92-ec63507fc69d CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 244a9eb2-9093-42c6-a1f1-89e471f62a47 CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70348155-cafa-46a4-9d1a-c6928cbe11f7 CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b492359-1ea0-4f90-96ea-694dbef71207 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdb7af5-da4c-4331-8816-1b6967b50dba CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 075216d5-0e1b-40e7-980d-e881b5cdd2cc CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8c5090-f16b-42b6-b043-6bb51acf48f5 CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f685b78d-87a1-45a9-b77f-ff53ba93b239 CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a16dde4-1171-4b72-a4ef-b20cd2733a5e CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0768e96-7fd8-432c-a7fd-d8a17d81d3f4 CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d6c366-83d7-4aff-af49-5dbb191e61d0 CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f727f4d-61b0-468c-8df1-5bc23a8ae0da CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff941260-7918-49ce-a8b4-feb4a46d09eb CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6feb28ac-8901-412e-afde-7c3321f727ce CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acdcedc3-47a2-4594-99cc-e3e1cc27bb2f CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e08dc5b3-f097-4547-8446-13ccdd86f778 CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea7436e-213b-409e-987f-7a66631bd3a6 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 058a5388-f6d4-473d-80d5-71aecb3fbc83 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5fdba18-a41d-44a9-abf3-e771c6ae25d8 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0229a1f-237c-4622-8112-cac5d64e3ed8 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b49e6d-1542-4445-8929-fbdad24b0e54 CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cd8fe2c-092c-464b-949f-c733543fd8d6 CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c61ba78-5b98-4b56-b8a4-9ce149a634b9 CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aeb8166b-06b2-4308-b18a-9daaa9b941d1 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c3f459-181e-4098-b79f-fb4fcab429c3 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1683c5e2-bb9c-4520-b663-2c3a5d6d2e76 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f8c0d8-cff7-490f-ae25-55366059af89 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1da64468-7ebe-4646-98c3-5fe45760e950 CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62981332-af6e-4837-b6b7-33631c43579f CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92bc96f8-f947-4677-a71c-8ade45dc9549 CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e8a74f-384f-4f1f-8509-89b2df2c7f8f CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5ca546b-727c-4889-9507-8f03946a0e36 CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ffb5e7-b5af-4989-9a98-5a7c1782f37d CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16a862ab-4f81-4158-9729-28f34e4aa498 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b50069-719d-4a0a-b8ce-74b6cf3244e0 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c3a5297-2704-436d-8d38-7fd1cb6c9894 CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a464a67b-7410-4597-b02f-6fc830b0218e CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f43961c4-172f-4171-89c2-f023376efb21 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a7b50c-3b1b-4ce0-9c45-f5b631bda1e3 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9da792c1-d988-4bad-b097-70613344e335 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7bc057-a115-474a-bf85-17281cb33e3c CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd73084f-b857-49d1-b8c8-86fe011484e6 CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd8f9a3-6eb5-4839-9848-528ca9001324 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27b537d0-3f6b-418d-b238-15b0620caab3 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f011e6b-fe4e-4fb7-a101-fca0108f3779 CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d6efc1f-9c79-4152-9352-12d28344b23a CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbfc40f-0d9f-4209-80b3-ab8c83ac339b CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3dd95f50-c8b6-45a2-a6dc-f06d7a8dec50 CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fd8466-cde0-489c-8eca-54e2dffedf36 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a38a431-b192-4ac4-8f20-13cd825d880b CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1f4f39-2e04-4569-9cee-882335ca9515 CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14eafe10-8bfe-46b2-bc63-dcb37cb1f610 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4cb84f-2f5f-4a33-bf0f-967bcb22a814 CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52748046-ebe3-40e1-9981-e02b4d50c78d CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46a1145-4a45-4767-8eac-e36a9b6d67e6 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6f44779-aa75-4e47-a8bb-30f5cccb48ba CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c586b31e-1ece-4132-bf50-822308004462 CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a6de179-600e-4b45-b710-060ded35c340 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f048d9-c082-4728-9f5b-723f6ff6c0cd CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60b8c57c-02c1-46e0-b175-173ffad08ad1 CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800c5d63-92b5-449d-9882-24f5242b9449 CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cef5f11-0fef-4f48-8e6c-209691dad35c CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfde46a4-f4af-47eb-92bc-457df30c8b08 CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a496c372-3aaa-41d1-a576-46f9b1fe3ca3 CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03388fa9-24fc-4c02-8431-1b6980276851 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5d10ba1-c819-41c1-9f0b-2873528c4ca2 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64062a8a-8769-419a-ae4b-4543908bc523 CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 334de1e8-9bee-411b-b3e0-b6f0b0b70999 CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287703b2-8050-4e0e-b502-adcccfc6ab23 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e183d937-2306-458d-877f-0d9913c6a62e CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62db6e6c-56ed-4685-9110-8f947478352c CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 577de570-8a75-4d03-bab5-728214a18882 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97394897-91d7-4492-b0a4-5e4193663692 CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c44ba6b-3567-4c00-8a5d-e2b3e239dd42 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18e73ea-0419-4fec-9424-ea4886cc7331 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e660d7be-deea-42e2-b16f-ac9488dc5ae6 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17a55e5-1bfd-4aae-959c-b04819a48387 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec23979a-0996-4b4b-b7a6-597791c2e279 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e983aca9-ce84-4ce4-a037-6606b1a367b0 CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21e75806-959c-4436-bcbe-498f40996c4c CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7fc1130-35b2-425d-b92c-9b375124f27a CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7955d153-1e5c-4d40-a3c9-b045ec609ffd CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27dec32c-8173-4c76-8bf8-04a5c5aa523f CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 543555cb-0690-416f-b870-69a2bc733104 CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5378339-8c7f-436e-8f4d-41510c474328 CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69dd7eab-b280-4db7-afdf-485492fc4155 CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a47871-28a2-41e3-bccc-6a0269fc0e91 CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10e52321-7840-427a-b0a4-8ed600a9fe8d CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3efc3b6-b277-40e3-9209-65686d5e48ef CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d86715fd-ef58-475b-ad6f-50b60e93bede CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597b14ef-a82c-4cb7-85ef-543442a071c7 CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10906e78-f3a6-432d-9e74-24f8a7710a63 CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61d7ac34-f9d9-493c-88e3-87e1744d3c60 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93e0314a-c7ec-45d1-bfa8-d92e91fabff1 CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569d94b9-c42d-4ab3-a494-5ce0df0db6de CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf5e15ea-fa7d-4b27-90b7-d7e9239eedd0 CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a21749-6f89-4e55-947c-7c24c6af5f69 CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8847059-a473-4a77-a1c2-c3ebdb65d283 CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c451298c-83e1-4e71-bb7c-42c6788d997e CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 261ca253-7689-43dc-9b6a-e67fedb4b538 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb1f9ec-69b9-4db3-aded-16f04af8eb24 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1fcb16f-e4e5-48de-9979-1d0042ae8dc4 CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fec29f-fb59-485f-98fc-1522dccbae1b CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 434dfc50-6f0d-4045-a1d0-d560c2d18dc7 CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f787f51f-d433-4a22-a5be-828b63da26b0 CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ce6dd60-abba-4a51-b76e-e49841b15ccd CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b24eac0-2f50-46ee-9383-781b6cc91a0e CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 380de75a-5025-4bb2-8f0d-49f84155a411 CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be99e7a1-193a-4ff1-b167-1fb834e49bbd CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 285574b0-8a1f-4c89-8d99-8e4bfc39892f CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c363471-ae95-44f8-9e41-2ea8571fb36e CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21a9a32b-c5cf-4d58-a61e-1ee95c38cfb9 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042e1aec-5e2d-4799-92d1-ef96493c0f8e CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5811e5bc-aa0c-40b0-a218-f0ef87b721c0 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67720b0c-402c-4269-bb1d-84f36e53d44b CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72eecea3-19b8-453e-8cad-8ab304fc1449 CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982e8b2a-23c3-4df2-b1d1-b6f16f22d3e6 CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f27958bc-f2f2-4d13-b201-a5ab67fa690d CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afcf0f8a-60f2-4ee3-a26e-15ebbd2a916b CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e6c94d2-83d0-4b02-ba14-3d343b6a88cd CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e867e3f3-a50f-4afb-9fff-19ebb151502a CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3ee0caf-4a1a-4a97-8f69-0e04c75ed043 CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2d2dcb-5684-487f-bd5e-8d53faab0c5e CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 336dd50c-aa01-434c-bfe9-e414da8bf05a CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382cb86b-f8a7-474d-8685-8fa378ecb923 CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f3b667b-b36f-49ba-a9d7-77684ce1020b CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d76d5c-75b5-45d6-a908-452bca316ed4 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 493e8c6a-804e-40df-8ac6-21c62a38d6a8 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654e2516-fb97-4b63-acd2-860d84affa25 CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ac20c9b-405b-4e7d-9a60-a6f3554338a2 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f018aaa0-f9cf-48f6-9c52-b7baab548c5b CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6921481-f935-450a-91c7-a004332144d6 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76423af2-34bb-4aff-b9dd-fda6513a4ced CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd4c5d08-e574-4839-9968-a9b2ad5d6c98 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1aa45d-c6e0-40e3-911d-9db26febae54 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f19826a4-fed6-4d21-86ba-706911056b1b CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23db4a46-a88e-49a6-a320-14e8b192696f CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3103ab66-c22a-4dc5-af98-401e7ba3b0c7 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274bc8d6-8c51-4210-b97b-5c91fd42fa52 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d0bd948-e816-4201-83ba-92f0db04cdac CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6009a5c3-9083-4c2a-ac02-5a07b310d29d CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 200f9878-2330-40a7-b43a-596674140274 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f3f325-6496-4eef-9497-4e9aa900588e CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82632370-052b-4479-9ecf-71e94331e5ec CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d66b0f-368c-4b81-8201-96f0a991cf1c CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9816caa8-2e36-4098-80bf-69ca163fe85d CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8242dc-840b-4acb-bc28-dffe5407adb6 CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59de5c75-3fad-4469-aeb0-72723f981c0d CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f6b1be-25e7-414c-87ef-0705e120a67f CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec1a299b-e8ef-4f6f-bb21-d400c025cf25 CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c295c2-8647-4392-ab65-a4d12ed24412 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8cf4e9bc-38e3-4798-b178-af1620172442 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fbd5a2e-fe30-40ce-8a74-b52ae8e77569 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen add1fc50-8e36-4f25-aae5-0a619d1bb342 CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a5492a-f097-4ad7-a644-947d9fdc8693 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71494d2b-3d50-459f-94fd-fbed22a22335 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384213f8-46b5-43af-9f4b-863105e081ff CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c68ffbb-ddc9-4fed-9bd3-cd045addeddc CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1090c84-8a6e-430b-8dae-9fbb3fc021fa CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ffa48b6-fa37-40cf-80fa-f1c09212e784 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6825643a-527c-485f-8885-7739d0c64e82 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b987c7b0-4100-440c-b004-ecf6aa363240 CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5c2612-2d33-4795-b520-b9d0b0b43654 CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 171e9a34-ebeb-4852-b7ef-cd896bcf5b6d CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cd0484-e8a4-4695-a63f-3848d68cb53e CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17d97d56-7447-4977-b928-a1e5290875f7 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af67a1f4-d1d9-4510-b234-79db665e517c CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 956a4552-ccba-48cf-8c73-ab6971cacdcd CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07102a56-ec0e-4b25-b9e5-4f5697e214f7 CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d1dc067-f999-4a81-8820-4b86557c8e81 CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc62554f-c4b5-477a-bce9-d7bc05f97fe7 CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0e394a2-ab75-4e11-8c55-592a3587b47e CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3482f4f-1e0a-434d-9406-4b2f1bb43cab CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3401bac-fd3d-4f6b-9a98-0234faf6e0d1 CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd2e4e2-348f-40f1-9698-a6aab469fbd9 CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ea7a485-1886-4adc-94d4-88f59c4e9ab9 CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d23ec63-7ac9-48b9-b8a7-f4dd5e0886f1 CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14d4fff3-ec81-419d-b9f0-9b1f3b1a8712 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0679fbcd-5c8a-4dcc-a483-51fd26f7f998 CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 713041cd-2f0b-4e8b-9532-da77d1b93d21 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e0c400-ceea-479f-b8b2-16e69beaf345 CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13465fa1-46bd-4a20-b0d8-e537b0f91aed CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e1d9cc-0e5a-48f4-a54c-db82188ae018 CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3fc9f14-864d-4279-8701-4862deb96d0c CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a943be5f-4326-47f4-8995-a3a6eaaca9cf CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3df31540-9a35-448e-9ec1-98f115e7eb9f CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675b65be-4128-4c9f-9220-17e64dfb5669 CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55db59ef-25e8-4e03-a9f1-db74f241b08d CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f863fb-22e2-407d-a163-a029df7720d0 CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf0e243a-d96d-4876-a201-a209f2c53f99 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d5b6aa-eff4-4e46-ad31-844b0fbda40c CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6327162-ec28-4bbd-8fde-414cab2f1600 CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc6e1b0-f0f1-445d-8563-60d4f0ea44b0 CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbd64482-6d08-431c-9f54-35ed7500d00e CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bbe825-d282-4ae3-bfba-01bc0dd88b50 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff2b8b29-5549-467d-9435-2a7a29b9300f CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdac6c9-cff5-4189-83ee-279e0add985d CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fedadba5-4930-4b30-ae09-33c78e1e5f2f CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1ef7b6-3678-4709-90f0-0ae53773001b CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0b78a5-292c-4798-9d02-71bed32c48f2 CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d4f711-ae42-4244-8384-71b490d9116b CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fb222cc-d453-42a9-9b60-7ac76601337c CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae707701-b827-47d6-9017-3cf5bf078e38 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd7a8058-ba8f-4b3c-a2cc-ec7e75f80db1 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f12f9e-7d0e-4f3e-bf7d-01c44958f7b9 CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95aa9288-2517-4240-a1aa-f64d1452c2f4 CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fec12c-13c7-4a14-950a-264f3aa7d5cf CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26688ef7-83d3-4793-bf06-03643d4faabd CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac8aa28-571c-49c0-8ce1-6275df615654 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27be8f43-0763-432e-b7a3-3bea3c8aabeb CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f34cfc0-02fd-4ea9-ae45-010ed5b84ba0 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 147f77b3-37c0-4d96-b9c7-892c0c744e61 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1371be-190f-4f48-a976-92c96c453983 CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42b0b131-aa53-49bd-b9ad-6f6f8474c017 CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7f72f6-2a55-4409-9da4-994b62031bca CLINVAR:1948845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df25b4c0-8dc2-4e82-a993-63c3cf424140 CLINVAR:1948845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef43fd3-14c0-4c4d-9f24-375da5f3ee58 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e985cee9-c116-4c71-b7ff-919cc7d8d055 CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31456a2c-e2e4-4e99-9d48-cbb01162a5f9 CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a03d210-ae4e-4388-9f0c-47a3f5802b64 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd404e5-183b-44c2-a869-8ad6084746fd CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ff1188-a4e6-484c-bd69-505d2a23d530 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b2a505-f113-4de9-a5bf-95a711763370 CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d760e14-7b5e-4733-88f8-f3d94fb8f0f8 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481ae5b1-279d-4695-9d91-ce7529a4349e CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 708a59cb-6020-46b8-917e-35347392f2e0 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ba4a46-3150-4080-87ad-4a24c31a3259 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7da76bf0-11fb-497a-a543-bfb29f2d8fdc CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5337607a-615d-4cab-8db0-e1460767aad2 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ee30f49-d790-4287-9f4d-9230c28431e1 CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0920aa-c3da-44c4-a76b-e4a7a5bbe6fc CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05daed84-e3cf-400a-845a-1f640883c9f0 CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a9c493-cf3b-4e19-abd0-69df366221cf CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddfb507a-5a33-4156-a688-89f47a5a33da CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b746e49-90c6-44df-96e7-f58730093d28 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bbd8edd-9957-42ae-b94d-cde8165f97f2 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe6aaa6-3850-4f6d-ba75-eb95bb5f9684 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5383a212-8d18-44ff-a347-ee783b16f898 CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bfadb8-1cd4-48f6-ac1c-a3998a580a1c CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d1052b2-f244-4e86-bd93-b1a8d76629af CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d72dd8c-5b30-4b78-b826-a429fdf39756 CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52d86590-5ed1-491b-a605-1692cbd881fe CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56860096-d3ae-40d5-9c97-3c5c2c07ff37 CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9af6d0-43d2-4b75-aef9-2252076d6f6a CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e9e983-4ea2-4bfc-8718-72a61d3f9731 CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13d3c606-41f6-4707-81ac-8f528fa4ec95 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27546d3e-5756-46f9-bb3b-95cb592569e1 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fcc7e9c-f178-4b38-8750-57c28d040f52 CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 896b4e2d-7987-4532-b19d-5fcfea589860 CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8b9a249-8893-4831-8f77-ed7ac9d486b7 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec639665-f8ca-4e48-ad04-d0f66a275f63 CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1db49dc0-c6b3-4b4c-9f0c-9af47e46072d CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e69f855-4815-421a-8427-b66d08777bac CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b7826e-154d-4d80-b289-1bc6a999ef01 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3cb14e-7f03-4d3b-b6cf-3f302ae7abe7 CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0ebf130-0b32-4f62-b634-577d0a775ba6 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157d15a5-6e77-4767-8c65-860fbfdf7616 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b872a1d3-fc64-487d-9157-66a577765d6a CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f12aedb-fd38-4458-8b5d-676a32562b6d CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c67ae187-c662-445e-ab15-6b3692486761 CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac52722-4aec-4265-83ad-e5a77acbe2a7 CAID:CA410207999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd75b31b-8d20-4077-86bb-925cbcea3076 CAID:CA410207999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdfe555-942b-40b0-aa35-5dff95770529 CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4dde70e1-3468-44db-a38a-24b95d8c678a CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20a89c5-cdc2-40f8-94bf-c972b1314998 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8358aae-40b0-488d-a78a-4f9721932b50 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4380f2-2b94-4e97-be04-c2db27ea8776 CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04133b9a-c850-4ee6-b7b9-ee351fa78f73 CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aabb6346-a895-4692-8b49-6577e803ffd8 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36301457-a1ae-4be9-a609-2c6becc1aaf2 CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315b4292-2d3b-4684-8824-7c27b67100f0 CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa536ac4-e650-464d-b412-eff70f05c1d7 CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e01cd1-4131-4ecc-ac60-3b45a91835fc CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0aae8cb1-04a6-4a59-ab9a-29f789bb6a93 CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c1ae62-f15e-44e7-8ef5-4be37ab10807 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6909dc3f-4e1d-4d6f-862d-d22e86946325 CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11e201d-ea32-494f-86b9-780ab38afe38 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd0b4a98-24bf-450a-a1a9-af860560f427 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9655960c-c9b6-456c-af26-53acf42d00ce CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2f9c25e-b7c3-4f2a-afd5-24fd769fac55 CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5673e5-c302-41dc-8292-c259feedafa8 CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42491e1b-44e5-4aeb-a664-625f5d9d63df CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0f6f74-6f2a-4990-9bc0-dce54b58239b CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01a27378-1c03-4d71-b389-db5c1246eb34 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daefddce-4ec8-4afb-b048-af7fb2c637fb CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18946eb9-94b3-47c9-a12f-3b47382b4207 CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba574313-8a3b-4f9c-bf5c-566d95b0bda7 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11f55caf-95fe-4312-879d-83614583959c CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd0389f-de16-4e83-acd6-0dd6b2561bba CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af015986-5c44-4b77-aeb5-4804eb97f0f9 CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701975c5-24a0-4b9c-bfbf-8e9c05611cdb CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6934d5c-8c5e-4831-a5d3-df5d212af8f3 CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0553c3-e8b0-40a5-bcc8-22d6e5e1a61b CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6e70606-5e42-403a-aa21-daf018807ca9 CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65733a3-0270-49ec-8b26-18dc3fa573a5 CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03963847-25af-4bb8-8757-f1d589289334 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29959f46-a249-4b58-bd5e-36d27ecb92c0 CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c951412-bdd7-4611-9e11-eac148f88426 CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0144b69-3ba3-485c-ad3a-6a0038725df1 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c061509-120a-4151-9139-a09a9aa90b32 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be6f465-0385-43ec-8cd1-16a8e8815f5f CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 155890b0-7b4d-4aee-9edd-7369c30207a8 CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32adc38b-5a99-429a-a206-f17a3bb6e8a2 CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0a8ca68-8163-418b-aa19-50af81fd89fd CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95f71a5-4546-428e-b49d-fb9872868dc1 CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf034bb8-52ff-438f-b512-128684f1ab61 CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d00182e-78b5-4fad-a550-0fa856edebba CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 576d7d52-2b22-4197-a16e-e8a2839084cc CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f481cb-46db-4768-8c43-ce7da210bee2 CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bde12d3-54e2-4971-a653-f677219bfb96 CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac6650d-f67d-4375-aea7-9833d50bc789 CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76dd1325-2f2e-46c7-9185-645ff837e91d CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3bbc60-75ca-42d9-8bbd-3c81004fc7c8 CLINVAR:2146436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30749666-4a53-4728-a0ec-5be9cbbbcd17 CLINVAR:2146436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa55719-8386-4988-959c-3499031147f3 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14e54651-a5a7-466d-b921-8bdf796b5355 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35129d1-aafe-4298-b039-a3b3b56f73f8 CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25b4593a-c549-4e12-a553-7181eda9057f CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cb86bf-a347-45dc-a29f-b56ea4cb4982 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b413e6a-f790-41e0-b0e8-b112461af813 CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1b6d49-63cd-4461-bb35-5fcd1050d43e CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31c8a76f-47da-43ce-879a-129fa186ff4a CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abee263-78d3-4315-b998-ce869a842e50 CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c3c228b-133b-4a74-b4be-23a106a0ed5a CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a36966a-25e5-4fa1-8f67-2fcd76dc1aeb CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f65b27b-09d5-4583-b8e9-5192fefa5b04 CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9deaaf-7880-4191-8f54-544354bb9f78 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c38155b3-79d6-4e77-b841-6d393c5d16da CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecf092c-d21f-4647-acaf-4250b9a3634c CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b7709cc-b2dc-4879-9931-88a1806baf12 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68a2b4a-782e-4cb5-aaeb-9df9a7bdac27 CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99265531-d616-4d13-bddd-2ff951461d19 CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2cccc9-6765-4075-a643-c02137dba684 CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b77af30-58b7-420e-a5cb-e222f0ecf986 CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a2fb1e-0995-4bd0-bd14-d8c81f6e6166 CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ed0dcbf-f2d7-408a-ae42-264cf09b3c5b CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a96d08-7600-4ec0-80c1-be5d4435afa9 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1df1c179-05ab-41fe-ab39-e318943f95a7 CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac15b49-382a-4d6a-9d15-ba46c8cfc8b5 CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9b56aa1-7316-462f-bacb-d34ea6555490 CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aacded2-3606-4f50-bc82-fed2bfbd6083 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b2d7180-a421-4834-a8eb-57dcf48ebf49 CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9ab120-5eb4-4186-a0c2-3ced15bfd118 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46a3768a-1001-44e5-a7d8-fdcca8736d80 CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b84d285-5da7-47d7-b852-be100981de3e CLINVAR:2865768 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92661391-69d8-471a-9e1f-9229877de62b CLINVAR:2865768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0131900e-5477-4508-8046-c996a0a8fab9 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e1d756b-21aa-44ae-a2cf-e2823c117eda CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902469bf-117b-4615-8634-bae7c049b08c CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e6f8f4a-39eb-4560-8353-c84e2d9b6308 CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b0dbe2-af0c-4e75-80e0-6457e9fe0198 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0df3336a-b02f-4d56-8446-7cc042823fc3 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4987b9d0-18a0-4622-891e-f4e90f566844 CLINVAR:2831823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4790dc4-47ce-4085-9d22-c38acfd75e41 CLINVAR:2831823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c46f947-16d6-4063-92a8-acd28167b3b4 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3e3b709-6f9c-4ff7-8ebf-f503d0e4f398 CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab5b362-6aa8-4578-88f5-97b9d3caea76 CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1c0b16c-30e8-494e-9715-ac7f2b7c548b CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83023ae8-024a-42be-a082-fd6d71a358e8 CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 378b9286-2c8b-4609-8329-58806c9eee0c CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8303cba-8b2f-4726-86d3-8c2e80ad8367 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6d0ca9e-5a71-40bb-a2d9-5beb9b7e285e CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1882bc-417f-4d48-aa92-76c3c3d987d4 CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5a5d028-9017-4355-b8ac-cdc904c58156 CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e51d1e-fcd4-47db-a091-64b2065f1080 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9d3f7a9-1e7b-483d-a81f-79df3181701d CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a26d78-c896-4fe5-af23-8d17619dd854 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4575923d-62a2-4f6f-beac-58bccba71b21 CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3449d5b-4846-4078-bf10-cc7c2d50fae2 CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a6cbd51-97e6-4549-9096-f18fd37552e2 CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6c9bdd-4166-4c9d-8fad-492b382ecafd CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ef68a45-ce82-4026-9155-b8edfb82988f CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c57ddc-fa22-47f7-877f-a8fc9422fda4 CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1e9b203-3f57-4a87-b326-83ba452fddd3 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c9f2d7-ada5-4657-9484-7883109bfec6 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e111b089-d869-46af-8371-238f26aa3a89 CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487081ea-493f-41de-9d51-8b4170370280 CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb4ab84b-2ece-41ab-9000-2a0d358a92ca CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631b9653-683c-413b-919c-662746a7f172 CLINVAR:425864 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fa0e36b-8a28-49f7-b23e-004f1b3dd2b7 CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e58a1a-7db3-44f1-93f5-853dae0e38ce CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70587792-88a4-45e3-8f26-d741d80bb902 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8bb2da-19e4-467c-ac0c-66ee88aa7c19 CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b50d4552-b58a-4a18-a9d0-df76a7a1bf65 CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e631f3-e4a9-407d-b1c1-1a063694691c CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4b09d2d-8a63-41a8-ba21-926a4f7c4568 CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ded12c-6ebe-40ab-a743-2ead8b8a7d7d CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 461a2606-e80e-4d54-bf1b-7472840ea80a CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5c25d0-653f-49ac-aeab-8e7ece871a5f CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d5da514-e0f3-411a-b76c-cd65ba422821 CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9529a95e-435a-47f7-abaf-0b9ca530233d CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 301e52e0-8722-4e7b-bdaa-6401f8ec3263 CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470bcfc5-f6c4-4285-b7ab-2b6b3071b3e7 CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f362b0a5-bb98-4240-b51b-d2ac349fab61 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454d5954-1f9d-4169-a699-27c4a1b3de49 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e271dab7-8eea-44c6-83d6-711f5f70cb31 CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31859127-d33c-4e48-a042-1abc71f99762 CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09744100-439e-4091-9a35-6042bbeaa1d7 CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678cb5eb-7ba1-4f1f-b231-4f7b5b678f1f CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2073eabb-5d71-47ed-8f33-d52e0a37932e CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9a8ecd-f876-4520-8dc6-3d560b0841d0 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06ef716b-045b-41ec-aaa5-e37df6782666 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66804f71-19d3-4be5-80d7-42d5c8015aa0 CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3080e5cb-190b-40e0-810e-273527f947ca CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a948bda9-f450-42be-9bf0-6e7ead2327e7 CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cced383a-b3dd-4a7e-96b0-2bbefd9ae66a CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a16a828-2a72-43af-b32b-9f6a8021962c CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9a0f050-19e9-4ec3-abf6-c3ab5e123e44 CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d1724a-3cb8-4f2a-a3d0-e11d80e57f33 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a6857a4-427f-4897-b4e6-e786b496f079 CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5f6f9c-2175-4fc4-8bda-92ae1199f2d2 CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39c9ed0e-fea5-4d67-bcc8-967597ae8ced CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af97c594-6319-4f1d-845c-3389c9ac3249 CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58d0aaf6-5ed3-4abf-84c0-18a659c5c0cf CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dea7200-6ffe-492f-95a8-c065fc61428a CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65f797c1-c39d-449a-8ece-5162403d7202 CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04e8812-efb3-406c-b5b7-dd37b1bc2c7b CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26717a61-9aac-4fc1-a86a-7b3e13dec9fc CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e10c13-581c-4bfa-8f2c-9e07389d10e6 CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 491c6677-abf7-4406-80a5-fc3e725e1971 CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0150ef47-fabc-4bfd-b63d-abb94e594d97 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa067125-19c1-4a58-b12a-1f170bbe5d3c CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047c3b71-6442-4bdd-81ec-c350c4dbb397 CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5744c0aa-4346-4c24-a3fb-995511b1ee09 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3bf92d-3c1e-4cb2-b430-a8c3d8d91712 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 430fde40-1d9c-4862-a9e4-20bacdfa565d CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785e25ca-2d43-4338-9315-a43722c28d96 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9403882e-4ada-4679-9d79-23bb3ad21558 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd88f8c-dd5c-4df3-8124-0995c686ac85 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 224b204f-613a-4c25-a812-643084379431 CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50506fd6-bc6b-4e07-968d-d71ee5f5364c CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10da7ce5-ee97-43c7-ba6f-5abb7d970cc8 CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8689648c-4a6c-49fa-9c45-54177d26cc26 CLINVAR:2021682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e387330c-2d0b-47b4-bcd3-883490adf4dd CLINVAR:2021682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8787c23-4e55-4b52-b361-517a8b999cf3 CLINVAR:1556993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0c5140d-bd78-4b9d-b051-bb6cc237bebf CLINVAR:1556993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4ecaf3-e4dc-4902-a07a-ac8b0f93a176 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b185388-e90c-46a8-815b-28bad4b0de08 CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506b37b1-29a5-4d4d-b42f-131d37eb9b6a CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3edd73b8-7117-44b9-9fec-77e191804952 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c7a9af-4e6e-494e-9e95-e9269e830c8a CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e88082bb-2bc8-4bf6-9066-399ac9ed52d8 CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6b7f5b-dd65-4346-9ff4-957b9c5206db CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 875b472e-e2b1-4763-b15e-29932675f2dc CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd248eb2-4dab-405f-9f2f-1bb36453efa2 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ad32fca-a6f5-4d7e-96c3-3eea5a07ac50 CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60275b7a-c511-4558-be90-5c456c3bfe9a CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f70ffd92-4123-4ecb-8b0b-505c9cbe5a9a CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40123fb-3f85-4660-a9a8-db766dff73a6 CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0f42978-a792-49c2-9613-e9f2bbee9871 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45450605-3289-4e5a-84f6-aa4c8c346dbe CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fb32d7e-e321-42de-bdf0-3095a13742ec CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881f3c59-5429-47cc-8c01-0742b932bd99 CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ae796d0-42cb-412e-9bb3-ae798a8bd8e9 CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2f65ff-9a8b-4840-8b30-8d4d03a4d104 CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bef0a86a-c0c1-4e7d-91f7-edb36ad34a68 CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297385a6-a795-4670-ba35-48d07dfd89bd CLINVAR:1552198 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2898ebdb-6792-46c1-9617-f52606e63332 CLINVAR:1552198 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4473e8c6-fa7b-42b6-b288-02896a6ea0f6 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e30f4572-0187-434a-9cb9-6ba35d46bb93 CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360a2e86-6e1e-4403-b20b-2cc626f212eb CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23b9a55c-7c64-406c-b87a-2bfce2cde2f0 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be663f59-5c75-4374-8fb9-cbff5468cec0 CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d20b304b-528e-4598-86a0-37ad2eabd71f CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ef4f2b-a510-4991-ba25-8c796034e5ec CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f1517d6-9fbe-45aa-9709-13272b82ac32 CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c21feba-3606-4579-9a58-b147a1a9c009 CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 720329ab-549c-43f1-8e2b-9a2fea56af0d CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f56e5d-5660-4d81-a8bd-9141fc898a5c CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 548021d6-47dc-470c-8673-8801bfec927b CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec245ee-5d1e-4349-89e5-50bc6c69fb51 CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a58b61c-3827-4bb3-a583-c4877c7faae1 CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5710bf-ae60-4f51-b6d3-15593b76562b CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db5fc031-fd09-4a66-b6ef-da4f9c37bb3e CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cc145c-ff30-4dc2-8fe3-ec74d0bb1a17 CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e23f216f-7caa-4cf1-bbd9-74209cfdc267 CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761c6002-7fac-4336-b599-e79a19440956 CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20f0a737-5bdd-4d6d-8608-cc36891cabca CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fecf2089-3f54-4f5f-8deb-6f7cac6314e1 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33e1dc26-6ccb-439b-9b91-96a51fee59d5 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baff203f-f5d7-4e98-a154-0fe2d04aacdb CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 564d161e-d7fb-4a32-a50c-fc6d59c1d92b CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e0927f-6126-41cb-9960-7536b7496873 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2751ff42-3659-40c9-8703-ae5f5d7b61a2 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e63a66c-5f89-4fe1-8455-e9ffdb5500a8 CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64c61015-6acb-48dc-8799-dec430fbb7a0 CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef07211-3a5f-4435-ae2f-284d51d02f19 CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aea58cee-a6c5-43b9-877e-8e67c6edc1a2 CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df741b6c-7df8-4f79-b4f5-4a1686618de2 CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9827d2da-5f9a-4485-82b7-c4c1716de399 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3ed385-f61b-4e69-b262-9020bc56d628 CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91680a55-32ec-4ba8-813a-600e70d92221 CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13418cb1-30ee-4082-83e2-f07f8ea24986 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cdacdc5-87d8-4f3b-a251-00c5a2730abd CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443d93b3-70df-43ba-ace0-ad1eb473f48d CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfbd4584-72e8-42e5-b83b-1e9c144b4000 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9363a58-2259-45da-9192-2be44353c9b8 CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5da6553-432b-4386-8610-9d6ad5a2765d CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f72c72-a626-4387-a54d-bc106247bacb CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f627796-efe8-42d7-9fb2-69bc6c35454f CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c988a14-a65d-4d62-b003-be8573133d56 CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92c87a7d-0b66-4ca2-a21a-6e7bb5cf6724 CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d14dfd-e1e8-4e70-9f06-0d4fa6e5c2b0 CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd5661e3-7cee-4520-82b1-f826696d5850 CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7dc915-ac9d-4fef-b83f-796d2b404250 CLINVAR:1351602 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ed79439-91e0-4fb0-a0df-7ab9c0b1e9cb CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8fc02e-4e31-43f6-9022-6e29a158a343 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c496a5f-b183-4350-b957-0138e069be58 CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7a7bf7-5f5e-4646-a0d9-2667d5246ce7 CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c50bbab-6b22-48b9-b6f4-954e4c954f00 CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87057c6-3e3a-4cb2-b0c8-36a6265eb4e9 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55a0b0fb-642c-4256-87fb-70c616492670 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51149dcb-1c82-4969-9f4d-1641b50f1c16 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20335e94-a403-4a91-af88-7dddf5547e89 CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47eb323d-47da-4f1c-8b6c-ec08c8931b6b CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 967a3d0f-b3f9-4534-8762-90b8e533192a CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68af8db0-589e-4ad4-8531-e606c396d124 CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa62eab0-0e3c-4dac-b296-410447c61527 CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6008c522-8fa7-4f5a-b696-df8486d327f7 CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d00ff51c-fa67-4614-99d0-201e90afa9ba CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399e9b13-c22c-4d21-9202-0b6f316bc667 CLINVAR:1642471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c86e4bb8-dcc0-46f8-86b4-f2d32ffec67b CLINVAR:1642471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d346b869-541e-4033-955d-7e5b0564ea9b CLINVAR:1592483 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69c4767e-7cbe-4152-8be8-e665dcdf3ff4 CLINVAR:1592483 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9afc12b1-564e-40ab-a097-3bfe7e7d1e75 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2346cb8-e368-4ea6-9213-5d4b0987a78f CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4760a22b-4b2c-4406-82d2-f0bdcce11f1b CLINVAR:1546102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc01fc2c-a84e-4125-a676-83c1be7ad852 CLINVAR:1546102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b1df25-9e2e-453e-943f-5eab75fd9762 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa85b905-789a-484b-bbc7-cb9dc892f15e CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b44b5f-459e-4690-80dc-67d6ec61b0e0 CLINVAR:2090169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen def0105d-48cd-4b57-a31c-562b29d3d36d CLINVAR:2090169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b7cc54-d1dc-4005-9f49-735ec2eccd15 CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2e35fd7-4ccb-4bea-adc8-86f52e8d6e8f CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05618c6e-7d29-42ac-bd76-ab0e15589245 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b18604b-bbe9-4e9f-aa21-b0e278793777 CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b79aa4-cb07-40d4-b5cf-4cb4ac63513c CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b5d62c9-9e2a-4c4f-8f40-cff5d2874bd9 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad5631c-a1d1-4865-906b-58dcf2fdf633 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e70180b-04d7-48ad-8406-40647af97880 CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c45fdcf-6471-4654-a6c5-47d0aeeeaf6e CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 516cc6bf-5b8f-4782-a05d-052bbfaca1a8 CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51967686-232f-4d95-847b-20d59b354dd8 CLINVAR:1701951 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92499e9b-81fa-4071-8a28-c48aed8790e4 CLINVAR:1701951 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c4da27-1c5e-4326-b592-88a87d0e2656 CLINVAR:1587386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1043d440-b770-4bad-85ba-3f251a1c9f1c CLINVAR:1587386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52d536e-dcc9-4743-99bd-397da627dc87 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97f711e8-ba99-448a-beff-7c6c3a4aa10b CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a9456f-6836-4b4f-a2cb-1c2c8322518c CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a10e4aab-8a29-4e99-9158-39978b1a6ff6 CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c884f472-a377-4fa7-a609-9ea8ab309f41 CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2b4890c-11db-4335-9aea-e199c7b776ae CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed77992-c367-42fd-b8c7-e7c446464acb CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 113cb644-ce97-4be1-a29a-4a291ece5430 CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168d5fbd-f3e1-4589-84f0-931ac2509c0b CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 963fcafd-7758-4e59-b090-a69cb1da47f0 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61922761-7d36-4752-9ba2-89efb2f49c64 CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df37659e-17a5-466c-aa70-6758fae32947 CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b899474-db02-4a88-ae50-b824f6c2a323 CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d88fa42-33d7-4d65-81c2-c86b14ce7768 CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9016d498-4635-4759-9fab-e40fe240b584 CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6f3b65a-7cfd-4f97-ae68-b013863b3472 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f77ee0f-123b-4924-b9a3-dff95b50cf4b CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd90ce91-5928-4d4e-abc5-1e6741392d21 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9b10dc-96d0-4d1c-a57c-88529ca309d4 CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a557f5b6-c6bf-4a7d-ae90-6871a919b02c CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f07b2d-025c-4759-a75c-6b40775592b7 CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b068b076-1a3f-4e62-997d-5ed6c0743bbd CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb521c6-d630-4dc5-8d61-d90630140dc4 CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eff364d5-615f-40ad-a0a1-ebe49a2e0528 CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da73f1c1-2d31-4951-87e8-1484be5c8c69 CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3491469-1ccd-453c-be33-96b3748b07b2 CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2baf3bd-ee2f-4620-8122-29ee691f6938 CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d4462e2-3cfc-4e38-b07f-fc98a664d643 CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39393249-8039-46c7-94c1-c87c01b2579b CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045f2f6c-8d33-4931-8324-2f5ea7bcf99c CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9318dc3b-9489-4631-b7b4-357bee36c461 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4519889c-20d0-4b12-9106-6119a5c92daf CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af16f58-5981-40f5-8911-301f8b7d1b6c CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a52dccfe-4fd3-4e89-b83a-1723465942fa CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b58994-d74f-462d-8191-0c5fbaad5844 CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12ef7f41-025b-471f-a360-229d003aa731 CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb7a1cc-6c5d-4e01-9100-47019ed39cd0 CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24e0e55b-97b4-45e9-81ec-154eda06d26c CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7daf74-a8d9-40a5-bbfe-d36af28cf374 CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa42f45a-88a2-4f1e-94d0-6d9c6cc396ab CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89dd8eb5-b4c0-4a30-9010-d9f5c176d32d CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 628265db-f563-4297-91cd-036c3a63174c CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbca5e43-1057-4175-84cf-18f065f944d8 CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2e8ed76-f82f-423a-b687-e489659a6f8c CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9d46a9-4a8e-4773-89ef-fac3346a07de CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6085bae-29f1-4e36-8b22-f65a22f93f57 CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd54b358-77b9-4bcb-b3ba-1c0214a851a1 CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38630646-f598-4909-afb0-711e3dd915ef CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e5ad40-e51b-47b1-986b-b49756c45800 CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 724a9d93-6bd2-4e22-b27f-8e65c5e4b630 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14ee683-f562-434c-985f-2cbc95bf77a3 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91b1d111-fe55-484a-ac36-2cb9cdf4dff7 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4132630f-d271-4c73-bb39-27f88a0f0b4c CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed287378-cf36-402b-9651-e476a60b2839 CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d657f59-8bb9-4202-a9af-88dbc14876a4 CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df6c0ea9-69db-42fe-a5d9-99fbbfe50d73 CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92bed65-05d2-42da-9d20-076dd151a17f CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d14c0229-77ad-485e-ada3-5d35e393abc0 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a91423-9408-4530-8bdf-ee0eefa5fd48 CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f700844-0322-42e3-8f85-c77d9e44f8d5 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc98260-d8e7-4e77-bff8-bfee1482ac03 CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68f2a1c3-5ba1-4cd5-9217-18a04c666e94 CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144a8866-0c91-433a-b488-fd82fec95829 CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82c02a00-6f33-4884-b8bc-9af0ba5dd796 CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111cc9af-459c-42ed-a768-a559847b0398 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d744741-9878-4df8-8106-a3ecebfe9098 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c8ceb4-467b-4e59-bb26-6792ce4d0d20 CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d207dde8-74a6-4a76-8025-30ccec4ef49e CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4718f949-1af3-4d8e-af39-910e981e4578 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d457649d-5a77-42ae-b5b7-8b47397e9ba9 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfec08d-d5d8-4d85-a986-fbabf681cfeb CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f8b6a3f-20fa-4b2b-89ae-503f73bf1e83 CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467f8b54-9dcc-42f7-aead-8bacb5b2ce2d CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e73a1099-5cf8-4cb1-aca5-f13072d93a4e CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8fe351-d16c-4cc7-826a-9863088ba358 CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37b3f548-639e-4637-8614-5a5e37e0ef99 CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f48617b-5619-48df-afa9-eef1015dc630 CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 589b77f2-ae61-4992-9088-c0f1791f9682 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2a7d69-a20a-4291-ac8b-ea17f2ef2756 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b262f361-9708-444b-a3b6-8511dc1eb093 CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5effb5fd-baae-4663-adef-a65bcf2d0842 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 515d356d-4953-48a5-bcf2-cfdeafc39741 CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e78b81-9fa5-491d-a07d-d53f0996d2e6 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1be20016-c6f0-470a-8450-e068c0469b61 CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce3eb5e-f9e3-4acb-9f6b-2b963cc14199 CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07643099-35ff-4153-8c0d-ef6be1359880 CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8b2635-861a-4561-afb1-9ba8362a7614 CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54655a31-0c8d-4580-8824-c3e9f0d38327 CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f317bb5-a9ac-426e-9e17-5e0745492595 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71b8cc93-d616-4479-977d-41e03f42084d CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc38051-56d8-4554-9c22-0388fd08b88c CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 025e66b2-77d7-4b98-a6e0-1d78eda04f27 CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270ebd4b-91af-486d-a20b-ed6ee9debb7f CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a9c2171-2a8d-4879-9478-f8ae77e365de CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce53cdb-a88e-46ad-a04f-ba9028adc209 CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f95171-8a77-42ad-bfa9-8ba3cc069cc8 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a18bc383-5695-47eb-9542-b4cdf88d4a92 CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 509224b3-058d-44e4-8389-65f4c86eeb35 CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d5e414-24fe-423c-83d0-73a4bb826d90 CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e46b94f1-ad15-4f84-ba9e-74d2a40c310c CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b87d32-0f25-467d-9473-cf704b93fd2e CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12dc4056-96cd-485a-bd1b-0b17a58578af CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce85450-be1e-4732-9a7b-a12f80feb2b9 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24b06f25-ae44-4e6b-b2e1-a2ab27f17d58 CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df3a663-1c6d-4f4c-8e48-e36bca65b7f4 CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ce4f850-7de3-4709-b4da-f1f38f0fc018 CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d65726d-853d-48e0-85f8-7bc4acb95c82 CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34c23b89-31ed-4d08-a787-0da68a359d01 CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3814ae-7f0c-41f7-8203-19cb65af6d77 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d814d530-f6c4-45d8-be37-d8ce1a8251e0 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e9600e-e04a-49a6-ad85-2d40fd0ffb7e CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5f4af13-8e21-42ee-9a91-3d3569146ae5 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a019b0-5fa5-4fe0-84e7-b5f5bc19a18e CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dda05e9d-4fd0-4722-9b74-36148b1171f7 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0640c40-5427-482c-bda7-f3c16030e0b1 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f91e645c-0497-4418-b264-85e334d0fe0c CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9f966a-ab5c-4cd3-918d-da41f34e31e5 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 393975ee-1582-4dc8-a3f2-00ce7664227d CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0e951b-f032-4757-99fc-591d3ebff68c CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0d25632-50a6-4d28-8f5b-9c7c0fd9e48b CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f929cd-e03a-4d3f-a90c-b6432325642c CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 553b12c9-5407-4e0b-9e72-cd966a233f69 CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6f1cef-ea7b-4b7b-9571-cf02400beea5 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04330b02-c74c-489d-971a-6bbf5bea3670 CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327fd173-120d-4262-a4fd-325be739e3df CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85b80e22-8379-4397-82f1-9ebb3a224917 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ffa9a5-547a-4dfe-99b2-d4c90dea5bb9 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 549ed706-d14a-4c91-a671-7c42e988fde6 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61457fac-331d-4ab5-b0c4-d75dc411ba6b CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f6ff9df-f0b8-4c4b-9b52-0021b97b3d43 CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f407b7d-dc7d-43b9-86b0-9a2bd6bafbd5 CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f5dabe9-44f8-43fa-9e47-44b9b025bffd CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76c7f37-6542-42a1-a9f7-e208553cdd0e CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b34e098-85d6-4e0e-bce8-c36c33671e1b CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b12b1e-8f3e-460c-b65b-bd7f871c4c2d CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af498e84-3ee9-4f52-9914-87d09d10e001 CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a1c850-c8c5-44bc-866b-e849289c7b36 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01b12616-56be-4904-9788-8571f37b4c05 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b221af65-2f76-464c-9e32-d30df7acb8c5 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8298acc2-0845-48c0-88df-f3af145df2e7 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8e3a94-8b54-4042-b558-a7695030ba63 CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8463f2f8-0b00-4705-93e5-3f0e1884ec37 CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44fe4729-48a0-4d4d-9bc8-b6d9e70c3a47 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27d5fc52-0d70-4aed-9034-1c9b1850663e CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73ea32e-331f-462b-b1e8-d186bc887ad7 CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d58a8772-e396-4d2c-bc4a-4f2eb5717146 CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a20e3f0-76a9-4b6a-9b2f-db6d57ef911c CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b85655d-0932-4d8e-8253-c943e2ec0764 CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5635dbec-ed0a-4c90-b02e-9378f601d7c4 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c26ff79-5a47-4375-ace9-7c55fd7d6cdb CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74be766b-9e62-403f-8686-408fe6dab14a CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 709f64d6-60ce-4927-b033-35c61adacd7d CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc7bf27-de71-409c-8c03-335d2f0e6b14 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59e73b5d-5c0b-4ccb-85c4-c918b9f32378 CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64fea1d-2239-47bb-93b9-d38b69d51d19 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b40900a-81fa-402d-8591-2c671954decb CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7e2d1d-431f-446c-8993-df5b9e2a5698 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7bda16e-4155-4df2-a4c6-788f3e262ef1 CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3c3755-2294-4b30-a1d1-d6dbdda04dd5 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94fee78d-2b58-40b7-9a10-59444e8609aa CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbc45c5-295c-4cbd-b334-04bc2e57edf4 CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8f624fc-65d7-4c16-86be-66f3146b524b CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1109ff-f389-4235-bd24-40b80e4d14ce CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0590ca0d-9393-41f8-985d-5c8f873dd64a CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ed5a44-1b92-4bd2-88c7-9e3441cfa857 CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 885e55dd-829d-405e-a58e-3ccb6bde48ee CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e817711-4b7b-4b68-9118-7a0ce2a5227a CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24f9ef3a-cb37-4225-a2b7-081f6c49a919 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9d42aa-c72e-4dab-a4f5-9a1b971d83cb CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98458e8a-66b5-4090-b64d-c3938ed53822 CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d70fa0a-8eb7-4f8c-889d-5e0471692aa7 CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d09c3f9-4915-4b71-8a50-d4e35ce6f74d CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8bd628-4bcf-45f7-abef-43ac6547352c CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a26cf1f-2352-4d90-971a-7854cf629cea CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4309dc01-02a7-4b0f-b424-db6f8258634f CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6564a25d-badd-471c-b6d6-a49b8a039f28 CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67bc2489-f68e-4991-848e-71c4ab7446d4 CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56a4e341-19e1-4582-9950-2a217d2ff5ae CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0abd2083-5701-4a3b-ac00-0ed588b4d128 CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 846f5fa8-b8e0-4b63-aa9b-801c076a66c0 CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571d013b-d2ad-4e2f-81f2-be948b30a10f CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 180bb877-b31c-4e72-aa75-801945ff8b13 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df95d698-7732-4f2d-952e-50dc8e657645 CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 749b8804-9e78-4f77-a5c9-c77bd9e54159 CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147fbc5c-91fa-447b-bfa7-df936dacf1a2 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18b4e3dc-1c73-4350-a9a8-abaeb1902b00 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33325635-b407-4bd7-a2e6-47e218e9ec67 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e6dc0a8-e16b-4f9f-9655-99ca644137ec CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6cf0d9-27d1-45eb-9527-d6f38a96d9d9 CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37677f1e-9efc-4dbf-975d-ab57013deaf3 CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e1a96c-b1f1-4131-9e4e-3e887cd0eb47 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a5ad10d-ff23-4b4b-97bd-afbabe3028d9 CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7cd98d-5b21-43a8-bb35-5144f111766e CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb6dc929-0665-405e-ae37-e1aa0e327963 CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429c0bdc-0681-4372-aa43-44f609949031 CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2818cad-f39a-4807-aed9-9175ec85a923 CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b43068e0-01be-4b72-96bc-5531230c547b CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd27d3a2-bb78-44c6-909d-6d2617606e0d CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc66191f-8556-4de7-b5dc-65c563b1f00c CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc360de0-0dc6-4fd2-8b09-8d09a44ecbb7 CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15053212-d4f6-4fb6-aadb-4d70acf8b52d CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55b07741-cd8b-4a16-8b0f-e25daa57a8f6 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f233a8b0-3881-40bf-a15b-cddfec00c212 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ed1ff68-ed59-4b97-9a12-712d2f8b8aee CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fc63fb-049a-4431-9ad8-f4fdede61c99 CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 136028dc-2c03-4e95-becd-8a2233e72770 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542b0839-d842-4700-b181-355085f6e358 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b26fc80-ebf4-416d-b474-f5bb7c6ace42 CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4769bdb-961c-4bd1-9962-ec12e9db7fad CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b85483e8-2004-4312-8cbf-fcf32fbea6e9 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e8a9a1-fc0e-40d5-b86f-681398c8cabd CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0645faec-f500-4bc2-bf77-fe6dd9dd96b5 CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4c16bb-b7e2-4ed5-9e9b-b56bfa2dcbea CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fc3c458-5854-4d17-96cc-b9c6ac039cac CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2a5423-ed8e-48ef-8551-161472c026ad CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e019ee74-d84d-4dbf-bdff-577bccda3897 CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326ab229-dcbd-4d8b-ad2a-3ab5a0cae5e4 CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e6957dd-6d63-4cc8-8cd8-4d12efbc5c09 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c41837-4d14-4b97-9e61-5d8fc42e7294 CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ded108f7-ce22-4575-a3df-c0d21fd794ba CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f09a1a3-a73d-4507-bc0b-5877ef1c220a CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec068d92-b584-41ab-8a34-726aa5e4da40 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4b8f44-e155-4a38-9546-eb1b4566940c CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fe474d6-7c98-4d62-9a60-48b10d70378d CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4ffd3c-ffc3-40be-ae9d-ad0583471bdb CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb54e5aa-e5a0-4c5b-a002-3e78003f3fd9 CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914a9bbb-f260-4dbc-84bf-dec5c4820fd6 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1485b78-d29b-4c56-8e9a-67f27ab74e05 CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0c90f3-0c08-452b-9766-92cce17bf216 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49a5126a-c7b9-4345-822e-9e10ea9ed03f CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85aaa56a-8883-413d-9413-d960223656d0 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ab3bc8b-37ee-4f49-b7d5-12ed201f0b94 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d538402b-6c2d-41ec-8bc2-81025047896a CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9d97274-055b-46a5-8af5-e06624fad4c3 CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dac313d-0b69-4e5d-b297-175c90d9994b CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b02c88a-1f08-4c86-90ad-906664e5bc87 CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6b47d5-b033-47c6-9b17-a1a9a471dc74 CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0770f9e6-2b48-4e77-93f7-be3dec9acc18 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff0d302-00ae-4def-8539-86c6a1a3f4e6 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0df32bb9-f11a-4dd4-9cc3-d745116156be CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f726ff0c-9b9d-40d8-abfc-18961c2f984c CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b4e8a06-3a0f-42f0-b554-6fd123ccfa98 CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f53186-34b3-4e43-b96f-dff4d4d05600 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c1fdb09-b823-494c-8cfd-260c08dd87fa CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e6627f-742d-4875-b91f-5edf4acac704 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6bcf10f-36e5-4f0c-b823-d3224f6cd8e4 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e956289-d91d-4a15-b4a0-64d3e36864ea CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44c9a88d-6940-40fd-b646-305c9f07cb37 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9c5e64-20b6-496a-b29f-0231b823b568 CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41535bcb-3f47-4e97-8c14-3257ae3b2579 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0084c45d-2d75-45af-bd8e-d0262a9dabfe CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b61aced7-6325-43e5-9328-b9b361c37482 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f858aa4-ea83-44e2-92ce-994d04838062 CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a0aad80-da26-402e-8109-d3f342483e79 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac95b818-123d-4c6e-9eec-7f5b066a7bc3 CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89278aba-9787-4ac5-ae68-75ea00106683 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a93bca3-c282-4ddd-b107-591934bd57a1 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33a4b331-505c-41a6-b7f8-3164f1690043 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111646d4-27c2-40f1-9375-b39d72e5477f CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0c7f733-203a-4f35-840d-fbf2e9ce1bbf CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db39a1d3-8368-4389-9755-b68ea608cce2 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64d7216e-e740-446f-8461-e23b78fc7aa8 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0177f11-5e12-4535-aaff-6b317d66c918 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 358626b1-c6bb-4a46-a6c3-2e3e4108ddbe CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6e0977-c5be-4c6b-a82a-16c2ecbb7448 CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7f618cf-523d-43f7-a9c7-c195ffafa49e CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c7dd7ca-344c-41d7-b500-084167306798 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46589e71-f389-4690-94a4-9c1a7d8772c2 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10667a06-ef8c-4813-8fbb-f1bfba82140f CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6bc2096-e07f-4f8f-8313-d069ceb627fb CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a6b8e0-dec2-440e-ad10-a8bd53b169a1 CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2efde1dd-7f3f-4a38-8ff5-93e9c726fba2 CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba94985-a9f6-43a2-958d-27f145636f1f CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa63d51f-15c1-494b-821d-126bedb8438d CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c52639-9223-4856-a0d4-d70b783de1ec CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bcab0dc-59cd-43c7-9360-c8ae9e73bbd4 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dab825f-6164-4ff7-a1e2-dd365f489ff8 CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 756050a3-4019-488f-8220-0cc9c88870a6 CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78dbc343-d7d8-4c83-b733-c7cd44547139 CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08842aed-9469-4246-bf84-1d983ddd728e CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e654a2-9b4e-4476-9645-19b1b8b5aa86 CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8e8edb5-70a6-4f7d-a4ec-7ad3958c02bc CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9dd2e0f-a379-4375-a788-253d82c773a0 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6309946c-0d4d-4c7f-bd54-61f8d05983e2 CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45af50f8-d528-4569-a2d7-28013a06caf1 CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cd7726e-afac-48f6-9017-9c36427beb87 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fa7a65-fecb-4b3b-ade9-b9fd607aab9c CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6756aef9-75ed-4904-8440-ae7cfbb758cc CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e29757f-47f6-40c2-9f2f-cd20efda5a36 CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f6e0f43-df4c-48df-b1be-50e27f22a2ab CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e54e81-eba3-48d3-9952-ea828e03217b CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f84f387d-6cbd-4a22-8a3a-d11ff2942f9e CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31033c8d-902d-4543-945f-e4eeb4100867 CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fc56438-690d-443e-84d3-ebc93dd8a3b8 CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe64756-6f82-433b-af86-74158a5e3c3c CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9bc94e7-4c84-407d-b6d8-67e9e745ff32 CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000784ee-c900-4b43-a81e-5734a5d969bf CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 803d57cb-1264-4351-ad26-0b29e0afb47a CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d58b454-88f1-4926-a718-da93cb1e45d3 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ded8302e-f84d-4129-9318-a470dc2d17dd CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77890374-a81c-4791-8d06-0610f44cbe93 CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 888111d6-a1e3-4f6c-aa4f-bc715e49506e CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc551da-5e36-40db-b846-b95bd10c6cc3 CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2307c3d8-546c-45eb-9387-078256759e8d CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd016b9-9c9d-47f6-a98e-0e6dc8dbf6d6 CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89335716-9dd1-4a77-bbeb-e780af169b04 CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f19bd43-d55d-4866-8769-427b25c6bdd5 CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d61a6d88-380f-4e9d-b771-56f3acaefdba CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b27e7c3-59d6-4dc3-910b-c5dbca4f3dd7 CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f34a50f9-3560-43f3-9501-9be3db66b435 CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcba086c-95d6-4c15-ab2c-3ed30444a80e CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84e3145d-97d7-4d58-9299-bfe84ecd7200 CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d0a2fd-039d-4155-872a-5146a8c96536 CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1224f530-9700-41b9-af74-66dd623ea630 CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2af4b1-7a5a-46c7-9906-a8bcaf5b6999 CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb6227c5-de64-493c-a8c7-ba96c3d6efe2 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7993096-ffde-4cad-891c-115c681dc7dd CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32ec2208-b8e0-4120-a1cd-d11a0ba879a8 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96bce682-81fc-4b3e-b076-99a85eaaeadd CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b672a7a9-2e96-49cd-a165-b122b452ace3 CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac48e07-14f4-4ef5-82f5-49cd0f607f5a CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18f8ad5e-202d-432d-a743-a06a99c52fb4 CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd890144-9b75-43d9-b7f4-8c7ab481452d CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 442e8bdc-5df1-49b2-8c35-2049546b7abd CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5320cca6-d936-4818-8517-73c552eb040b CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b76a17c0-7822-491b-ac6c-14175587ec62 CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb0210b-599a-43d7-8c9f-6068dd2b9236 CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc853651-0219-42b1-a75d-dc2899860239 CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c907662-5d63-4983-a630-dc943c180225 CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d6c14c2-a41b-492e-8d65-7a7aaf358738 CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47271fd5-f95b-448c-b2b6-27cd9364389e CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c96d5c1-0557-4c63-8cb0-0330fe3638e7 CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60df6b4-da85-4d65-8621-0861ecc11ede CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2585a9a5-97c8-46c6-a22a-948b7ac9d786 CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c159b71-913f-4942-a774-4517cb9fb082 CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5616c290-c29e-4bdb-8439-b337fc3a02f7 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420c24f2-ba96-4e11-87bf-fad2e6a163f9 CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ef1f872-8edf-4f5b-92af-0fd5fe760226 CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9aaa74b-d5e3-4608-8b76-87b4f8204fa7 CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de61ed44-0e01-44b2-9845-ee7c8ed47f51 CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59f1b3e-818f-4702-9e54-e4cfd1e99a1c CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d458eee-1a10-4c61-94dd-04dba1d49eec CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df465742-7331-49fc-9ac2-124d221a8117 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf5bfc0b-05ec-40d6-85ea-2b4a9bb5b1b3 CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d3289d-9227-40d4-a179-40beacf3fd7b CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89acc7b4-f013-4e77-bc64-6281a6571edc CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2cff63-2847-410a-bfea-4ff99c689bdb CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc4cc322-9f70-4c1b-b1f1-07ddc686647d CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cd1b9e-e136-4756-a702-e76921739b13 CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14323584-50ba-4ce6-8f8d-cd731acf3bf1 CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3665449c-adf1-412b-ad43-ed39c1f818dd CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d089f7a-073f-4d94-a578-3b0a18796684 CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14614872-3c98-48c3-b712-804c1a730d14 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1029549a-18f4-462d-b739-fb104a8a575c CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf997ab6-033b-47e1-8c38-e4e9d6a5db24 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8209386-8ffb-4383-b97e-27619a43241f CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb0d12e-cf90-445d-b4e9-70a7cfd2dae4 CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a02fb34a-4ee0-40d4-9d5b-30bb9f66e067 CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b07879-19a2-4b73-947b-96f65546baa2 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfb69c41-25f4-4451-8182-54023b4c5bd6 CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6b3583-b75a-4045-b4ba-a417e6e04617 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff3f73d1-07e4-4908-b94d-25fce00fc5b3 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cc33f4-5d0f-488f-8c68-6bbb04bccfe9 CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ea42d9d-ba33-4b9d-9683-7caf1d636649 CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9d5742-7e42-4644-9e74-2f5649821db3 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fd95c4c-3988-4d98-9113-07e045f94492 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4beb77c-ad57-401a-985e-c1ac4466a9aa CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a6673ac-3aea-4a1f-aff4-11b6520dfd7c CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f612233-a658-4c2c-8da0-89bd1e80242f CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 760bfe0c-87c2-4c75-9615-1dc9df425358 CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cdc7ef-a24d-41d3-bca5-f391e10af469 CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c46c40f-2253-4320-84fa-6001ca5a2939 CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb5ab53-df62-4be2-bae2-3ab005407db6 CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b6cfdfa-ac56-496f-834d-00c8f5dfe544 CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f314c6-9483-4eff-891a-9cbff3476e91 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85661f5d-ad4d-4b71-bf99-5bdf3351e862 CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02ce08d-257c-47b6-8571-b3e4a6105cbe CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47a240ec-a960-434f-9993-be654930735a CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0aea485-8cef-4e48-ac35-a5ed54133ae7 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdf0ca7d-6b08-4af8-9f93-7bdc872d951d CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2bd85d-f95f-4792-9953-76ab15d4f726 CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebbc3653-4d05-4c56-8241-96a55f1301e7 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33184e29-95e6-4493-ad05-29d392b37b97 CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac5eb6a6-ac81-4b75-b9ea-dc44d82cfc69 CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ca1de6-c7cd-4a1a-9b88-03e41e183366 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba4ac29f-8fe1-40c5-b13d-88c455ae3512 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a651a45-8ecc-488b-a3f3-7a0ee1736bf8 CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a471d743-f296-4139-a853-05250472373e CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc605ad-e8c7-4624-815e-10ee6277f665 CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36199323-8b0f-41e5-b690-6da097b4897f CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024c6d70-5c3e-4d5f-bbca-851f74dd23e9 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b558a126-a626-4669-b803-2044ac449e76 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2babdc6d-f84a-45f4-8739-9064dcebc760 CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ebe7ef0-fd31-478b-9fab-4430c1dd36c7 CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681be4d5-2ab6-4b79-b02c-f87e1fe34c13 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9e78783-7268-4074-aa4b-965f4da26237 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7372812a-6fc6-4e38-bfc4-7e8050460d09 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3af6dcf9-af4d-4f3d-8d26-1b072aaf18da CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fcd3ea7-79c8-48dd-8a6e-f5775c16aefc CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e049887f-e1f3-4c8f-8d9c-567553b269cc CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03f855d-9d65-44bc-834e-745806c7b199 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9feb0898-4ad6-4dce-a873-733484d3eee3 CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b20aba-dae8-41fe-be75-6a141bd7ec8c CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a0ad0da-83af-41e7-9394-4b3d7d862771 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b5f3fc2-c556-4bb9-82a4-c54538f849bc CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 706d1428-6996-4a61-834e-663fb6bd2fe6 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fe0d3e-dc18-4a7a-b2ab-17c8b5c12e99 CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42e27a4c-0636-4495-982b-f7bc6c5bbf09 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef88335-0ec4-499e-9eae-bcd48707fb12 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2a41472-a924-412e-b69c-2bae73d7ee30 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36724fef-751e-41f6-8288-d4858610363e CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf894516-4951-490b-8ec2-198efe3e98b1 CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ee6d3c-098b-4384-adcd-a3dd916b99f5 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 870381af-fb45-4b17-8d29-b167b6860533 CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8405954-07e1-4fff-b35f-88185a05b7ba CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae2640d3-56ac-40e8-9b39-ee47456fa049 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912cca0e-d9ec-4e78-9487-bed274e07a48 CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f9f7daf-d4dc-43a8-9ea1-e2f577e63885 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e11fb14-a2fa-4b22-b443-5f5138905c72 CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65780da0-b7fc-482d-9bed-117f30e460ec CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9342b0-c556-40eb-be4b-68fdaec0398c CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2f4b4a6-44fb-491f-92ac-91d451a5a802 CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5902cf-d4fb-461f-b9c1-ba6bfd94b7be CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 594e7e35-4cc1-4e49-a164-8949ec7f1f8c CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349e3220-f95e-4d91-9ab6-f40aa2d98523 CLINVAR:1602756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b625b97-a20a-407e-bf1e-edec9687c9b9 CLINVAR:1602756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514668de-80a5-431b-8594-7f49ed5e117e CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7216ec4d-406c-4d75-89b7-2820f876cdcb CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f82e47-a1be-4b4f-85ab-8c84732b0531 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf099962-4320-4a4d-b022-02c249e853a2 CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31928d53-12ae-4e18-b0a9-9a1993b85f78 CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cabe8c79-8e15-4240-9bd2-16f940fd056e CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b88a0d1-7e89-4c7c-ba39-fee8fabdf861 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a906717-3875-4618-b819-9eea58d7d87e CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb56f69-594c-42f7-8b19-a784ac347f1f CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e42e0525-14d4-4934-bcf5-2f9264808b38 CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f7762b-32fb-4ac5-bb98-3943c59ff545 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bd9bb0f-08c5-47b3-88ed-f03bb90d97fd CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea42787-713b-4912-baeb-8b8eaad61036 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 849d439e-d850-4f05-a849-47d19268650f CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820b76b0-3d4a-45a7-8376-2a4783b6a162 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52ea7e45-facb-46ff-aa56-ce9364e124ff CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0198043-114e-4641-b4c3-67e709de8027 CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa510263-5759-46da-92a2-6c80abd85f7b CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5cc7010-1f65-4530-a66e-4ab0d6a5a946 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af5cd6d2-9ce9-4a4a-8b44-d87c0a14a10e CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d84a09-153a-4391-983d-5503ff51728f CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af340a7f-2fa7-4197-b45d-2aacaa6734d3 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4728b224-4e39-418f-8286-49778075bfee CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a839949-229e-43ce-9213-3b54b6e9967c CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24de280e-ceef-4a4d-a238-16ef0033ffb3 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2919b74c-d546-4322-862e-5324de8bf450 CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d86b6e-12ee-4238-8df8-a5b8fd622678 CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 526e5916-24a4-49b0-8479-a3ae6609f4ad CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62da0a64-e4b8-4790-b036-c839529b5a08 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f750c3-fa42-413a-b160-59ece2179299 CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef88d8ee-07d4-4705-b325-4ffe8109c829 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e2441a9-4517-4d08-8489-59e5ee1589e8 CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edd278e-d4d4-415c-a6f3-319771d32926 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a945527e-bc65-4d51-a527-b1e8ce43763a CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25100c9e-7650-4069-aa7b-e7ba6c908a44 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c96681e3-0591-43fb-9ed7-e765c25b2bd0 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff0a352-9f03-479d-b9aa-6b9c8736c861 CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 689e3b80-a43b-4c19-b019-8674a0ee0639 CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8517c7-7c64-4802-a2bf-241623ec80e7 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a65fd54b-a1d1-4f3b-8c6e-ca7254f88100 CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2f62ee-bffb-41bd-9b41-ed3ce7209fd4 CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fbff29d-b46f-40f3-8e3d-218de58877a0 CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a96d06-32f8-4e4c-a346-12e535a4f9bc CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 342765d8-c24b-4cfd-a993-77489d8e31c3 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a5c04d-ab19-4dc7-a667-b7fa78f7e3a1 CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ad0e399-4b63-45ea-82c3-0c1444aec87b CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e16cc0-1734-4fbb-99ed-a9eca85589ea CAID:CA410203432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69eb7a22-b33a-419d-b372-1b7bcd4eb622 CAID:CA410203432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34901112-acea-4731-98e8-3a8f2e1c4995 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 595761e9-085d-4aac-b4a5-8b11aea627e3 CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b84068-50c4-4d9f-a4fd-67223dd7ad70 CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0158eb85-713b-41c3-be3e-9da1aecde0fd CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713c01ac-bb64-4242-b3d9-ae689ec63256 CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 466b6dfc-cfac-4e48-9c85-4956d05e2ad8 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e8b4a6-2409-4351-9e28-ff1e91f16ac5 CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d33c96ff-0269-47fd-8733-37fe9b34509a CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f231dafa-6940-4169-aa27-a21e87207158 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4e2be46-e3f8-48a2-b2c2-589a2acf0be2 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3935ab07-7aea-46f5-99e1-15d2acc0bf39 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d81a6129-99ec-4de8-80cf-76d7e6406d94 CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341a62df-5d71-400f-8733-32cf66ab42f3 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5eb07176-041c-4723-8282-35b18b76951e CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 036d646b-ef25-4495-9f3c-c3495209974a CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f941ea2-3260-4c84-a52d-bce65ec76e12 CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476648e1-0009-4bc4-af55-959d954607dc CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0caf7d3d-ab43-4794-9e82-b325fa4024ce CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca768973-a492-46e2-8f9b-1768694e3c91 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53867de8-b163-47a5-96d1-60f3c27e2730 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae8419d-6972-4434-bfa4-b11f0ff4b913 CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af74e896-e5cb-4373-a309-671031a4ab1c CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d24d76-25c2-4487-be43-8d028ef0527a CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bde33a9b-34d3-462b-b032-7ed86590ac6f CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d876251-8806-4237-9959-45bb10c55353 CLINVAR:2814422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c833d42f-191b-48ee-88ae-39c611a99790 CLINVAR:2814422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bde8c2a-5ec9-46a3-8035-b4e8ada91bc8 CLINVAR:2699087 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a135ae4-e4f2-4670-9fe2-399bd7281ac7 CLINVAR:2699087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9b53fd-9308-47ed-93e1-1bea4825dc86 CLINVAR:2808278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 032ba1f5-cccd-4421-b8c0-668e246032ff CLINVAR:2808278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f93e66-fa15-426c-a924-b372b35a3c77 CLINVAR:2814451 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0754520e-8475-44f9-b103-deca315cd078 CLINVAR:2814451 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21d3047-a9eb-4040-9155-da0829091f7b CLINVAR:2879097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ae73322-6977-4a73-b063-ec052d4a875b CLINVAR:2879097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f90386-c8ab-4f83-bbfa-603ccd244e89 CLINVAR:2755227 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0be5e555-ac4c-4537-8281-432874d6b9d7 CLINVAR:2755227 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a06bc9c-0760-470d-b0ea-4aef802b2856 CLINVAR:2988050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f2d696d-2b4a-436a-be67-69b1ea683331 CLINVAR:2988050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b9d7352-8fa2-4835-9daa-a17ce6963481 CLINVAR:2900640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b90b6e0-261b-45dd-a4ae-f1869b518dc4 CLINVAR:2900640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985c1752-a6ae-4092-81be-96a68e3f4140 CLINVAR:2755226 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfc0a87d-f7a7-4db8-84e0-05976202773b CLINVAR:2755226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440f031d-324b-4e3b-9099-4b91dd320c23 CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c46ebb5c-f6b5-4866-8b7c-23eac3650cbf CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e8bc6f-a266-4bdf-8ba4-7fd3d864bb96 CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7aee47ac-7586-4a4f-8804-224febcc242c CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15940109-ad86-4948-bb34-48424d6c36f8 CLINVAR:2751155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1080f36b-9fc5-48b1-be5f-d54e5a9a2615 CLINVAR:2751155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b34796-14bd-4265-b44b-2eb0d1223328 CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0650f25c-67a9-442f-8710-ff5e79c2c3b2 CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca1b762-0fdf-44ed-b909-7041a45bf991 CLINVAR:2834488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb5a35f5-7633-47f2-852e-ddd71525bb6a CLINVAR:2834488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144851cd-739a-4dfb-8029-9eb6ee904381 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9fd4e38-b138-46ea-9387-ec07fad0dcf0 CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2789edb-7e8b-4a90-b6f2-0375b3308f7a CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7997c55f-ddde-4a13-8602-7c08717cdb54 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d41094c-f12c-4140-8eba-4b6662a64dcd CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e54f1f8-29a1-4b1a-877e-e9cc303fe84f CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baaf6a66-122c-4941-ac63-a289673d054c CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce349496-c6b9-44d2-a63e-fdb101185999 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b6d79c-e1d6-4438-9886-a7f411f446ea CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8efa62d5-9014-48bb-90df-ab1e51f5aa47 CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4275ce5-1c11-4ace-939d-a493250f5cb7 CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8205e6ef-4167-4cd7-91db-297f2f80161a CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71ea421-8b39-4041-9e32-4edb037dc650 CLINVAR:1692647 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc7e7c6e-8c46-4674-9a40-3598a7af3ecd CLINVAR:1692647 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e268ba-4f49-483b-9634-13dd7685ebf6 CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3c352e3-9e5e-423e-8446-45bbade3cff6 CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c873f1-dc0b-4c68-9c14-7c276f80d50d CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 680f5145-40e8-4cb7-ad8c-4b61a6ee94d1 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf4cabe-5380-4f6e-b06d-bb0fd10a0b33 CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e72ec87c-293e-4fb1-af82-ec14b32ccb59 CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5d2595-1889-4ed1-8107-2bc6f8c2f000 CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c20a6aea-403a-406d-8931-7874da154d42 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54065af8-c431-4e4a-81d9-19b63cb6cf88 CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 232390be-fec3-4a28-9d05-15b86ba4351f CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70613594-8df6-4a2e-bce6-f508fd694853 CLINVAR:1528554 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e141f1b-6829-4955-84dd-2256fb151ae9 CLINVAR:1528554 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78950c9e-1680-471e-99e1-fddb29d35811 CLINVAR:1459284 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74a4af06-6400-42f6-97d2-fcea3dc12656 CLINVAR:1459284 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a50b9dd-dae7-4ade-8347-06094b58f938 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7403197-8a1d-4020-b227-446732b7dadf CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedac98f-c8a4-480e-95c3-6691912a33f2 CLINVAR:2013398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 958e273a-103f-4d42-abba-1499081af946 CLINVAR:2013398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c751226c-fdfd-4be9-9472-0e9976f100e5 CLINVAR:1988566 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53e4d50d-cacc-45b9-b711-b8dfcb9fb4bd CLINVAR:1988566 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74c050b-a1cd-4bac-ab59-c112174aa8ed CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa603c1c-8e82-4148-8e52-d9b6ace38f55 CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13199d7-8c32-4acc-b281-a4a74b48c308 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f8f92fd-a55d-40c8-8c28-38cf9dfac0d5 CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77909991-1283-4096-be9b-0a5074fc6f9a CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen daf48a0c-1726-4d63-89e9-cb28ecaf1c51 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75fb5e3-8b51-4a37-a8a6-202bb500b414 CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba27b725-15fc-4105-8373-4577bf99c1b8 CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ce74ac-84f7-442a-b354-655d68a38bd5 CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6176d0df-46d7-4d1b-a938-faefd5fdb5a4 CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71f5775-0eb8-4fb1-a9ad-14d1e8f6133d CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26b44f68-8710-4c57-921f-072a9c826d86 CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db37fcc-5955-43dc-9389-3dedc1de3c94 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1e512eb-a0e4-4b23-98f2-0aa2ac1a77d4 CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f9d689-aa5d-4cad-9864-af8f444b1f2c CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d05ee96-91c7-40cc-88d4-3aeddcfce516 CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98055f73-a58f-4c27-803f-8b7f033ddbdf CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff97b417-62c7-4792-b0ef-cfa49f8110b4 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8007dd7d-076a-4f8f-b69b-7983f6492c87 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a9ce646-9561-4af6-ab8b-31b476bf4b21 CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f09b29-ff01-4b6b-baa5-5af3ef989bcd CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77755270-3436-4551-a499-68d63fa0dd5f CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6480e930-5813-4ae9-9066-a04e4ac7ff0b CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b65da79-c26e-4e59-bb67-f8fa65b4237a CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206ec444-6d20-42c3-bb21-9ad19bac74ba CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f77045f-b12a-4fe4-908f-efabe63de05e CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8d8701-2b66-4e7c-bc9b-9363eb929c9e CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81aa5bf1-5af7-474d-a59a-c523431a2443 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760ff05b-4e91-46bc-99a7-9c7cf32ece18 CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d1f9f47-d2ac-449e-a6d6-9d99087652d4 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acd1da8-484c-44db-b6bf-492e492ba753 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0fe2b63-884f-4c29-ae01-010d8de0f98e CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e68c45-d1a3-41a3-8948-734b0264d209 CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caf0f680-3dd1-44fe-8603-59155120ccc3 CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ca07d9-4bb9-4b38-9342-023584451743 CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87b092b4-ec8e-45ec-86f5-71cc77de9bec CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda54775-483e-415c-a39f-46c611162311 CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bdee13b-f864-45ec-9115-34da44c3d274 CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6479873-2648-4307-a084-e4d5dab3c9f7 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a49b3921-3086-4639-8d5f-9c12b9fe5218 CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a852de-eaf0-447d-b1dd-a98c8e32e37b CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50029dd6-26fe-4c65-9d36-5002780fc873 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267cc165-3537-484e-b55b-db39fb09fe65 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65e3c2ed-7c0f-49f7-a1ec-efba8afbb9ea CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8256c7b-8336-4086-88a2-aa73a99e6b72 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b40117f3-66d2-4acd-b2de-1e7a63ca9204 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1670204b-a5b2-4d5c-830e-71b6ac899ee2 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95f0718f-f20a-427c-8c64-006127301ca7 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f94e0957-e83d-4ce3-b83f-6be97d7b927e CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bd8bbe6-1a55-4207-9048-29302b3a4f16 CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868f4fc2-3fbe-41c2-88a4-7fb3fac90b81 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efba2154-2a88-48c5-a6dc-3769323f36e7 CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7784313-cd28-4c44-b473-0fd4a39a2442 CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1cd39af-b0ae-46dc-91f6-e0e45b337e25 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b290e726-0137-4eb4-a390-d9e53bcbac75 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1fbd44a-9086-454f-960d-ceb7883de50f CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103cbe67-d965-49eb-8641-5f23fb730f72 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d84c5a8-1994-46c7-969c-94e30f67aad1 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b41929-4d4b-4ce7-82f3-2d1f98355ef2 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bfcb013-0d79-4880-bd94-ee324e1e8911 CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bd6604-217d-433e-acb4-0c001678835e CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dfcd3f8-25f1-4223-ab74-0ec324388b9e CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07fa515-fea6-4bd5-b829-75cd3ce54ae9 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad881a26-97de-40b7-af9f-babfcf3e9807 CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2cdb6f-4183-479a-8421-411c128f371c CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 990bf612-8a67-4fce-ba05-2735912147f5 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b44038-0f75-4764-b695-a0272eeb15c1 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 024a16d7-499c-40e4-ac7d-79e4175e717d CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcbcb53-c11f-4454-ba97-b1e737976f8a CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 484abf69-8eea-4922-bfb4-daff065c655e CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678fd631-5520-4c39-9bb9-1f555ee945db CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e3201bd-9eb7-47f7-8960-2dae07c15378 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae5e55c-5d0d-4e08-b0ac-79240625d579 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff0f36f0-85bb-437b-b49b-473569634e17 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c771771e-c7ae-4a6e-8eca-ab89b02760f4 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cc27f97-e763-4d6d-8785-f8c9ed0236f4 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0bfc549-c8a6-487f-938b-c2a1b9576a40 CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c22d47b-3ec9-48f1-b096-d59f97dae161 CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6852608-4d09-4837-bc08-c720c7a3d352 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2e6a47e-5c34-487f-8af8-e0cd7fc9ef97 CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4249b16e-9d55-417e-811a-90b1995e0982 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60df42dc-343f-49f0-b8f1-6ab97392b5c2 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d7be83-7b6a-4df7-9b73-4226a91aaa17 CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1597678b-0c4a-4bc0-84a9-6d8c16193b8e CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66082c4-259d-42e0-8e5b-0f682e84cae2 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e5f0e57-3ee2-496e-b85b-93ebbad85ea7 CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec1bee3-29ab-4386-b793-f78820884c49 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a91b11bb-c1ea-4ce2-a1ad-56d61231e97a CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070e05c6-26b6-4b5c-aaf2-a873b165a2ce CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 391c9092-4213-4a37-bdde-891eefde0b09 CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0050d0ee-30c4-43c7-a48f-8c42678736cc CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8adee2f-66cb-46b0-9478-7a79826ea84e CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42c493d-2c83-4986-bf42-9af6b27b216f CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2f1ea6c-b772-4315-8997-b0f29b78856b CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c4bfff1-af1b-4952-bfee-f23577f278db CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 844de218-1995-4e45-83a7-3561d11cce5e CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c91e265-5789-4ab0-b7ab-b422915fa811 CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0ff8c5a-5b4b-45da-bcef-981a88b57493 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5025a054-3727-4416-a9e0-e6031d064164 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eabcfe25-705b-42c5-b3f5-980ab8ec945b CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c77e16-8dbd-4206-8dab-8f56227b2b9e CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4738720-7f06-45b9-a6b3-d6e625af86a5 CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b53fd4f-bd72-4de7-a89d-237d27268803 CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3a5b8ef-d53c-444d-b45a-f1fc081e7a1f CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13edfe97-547d-42f4-b04f-ee689cbf5b19 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c6a969e-d804-4062-9400-8ae7cd4f6c17 CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17cbbf4-5f05-4e61-9234-6297c2827822 CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cd2554c-d77a-4946-be09-4a51d75751cc CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c29a99-9e4b-40b7-b77b-77a57fd2fa7d CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 297b9cf7-4381-40b3-a0b9-f1e7161f20a0 CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c524b8ec-2880-442b-9683-a3f11e24c336 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b433e47c-da44-403e-8186-8d4f84efbdd2 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc26ec1-123f-46ae-802b-4d3df9d2c95a CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef99fb31-b5f2-42da-81e2-661a213abdc5 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa3500d-9cab-4c08-bc5f-e102123a8b8a CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acaa974a-5994-445d-a48f-8cc55690a771 CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f37bd0-ed41-4b70-87c7-340dd7d0e913 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec671f11-cd32-49f3-822c-96a8b4c013b1 CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b9aa1d-49ae-4431-9312-ec66c6436793 CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad5372ed-bd3b-4e5e-a666-68ed10e8be32 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da3209e-a2a7-45ce-9bce-b3b4fc99a830 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 471b3c4b-8dbf-412d-8e7d-0a1e0a65d5a9 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52fb12e4-855a-494b-999e-8e6ca0852762 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fea99e7e-791b-48de-b539-07194628d7c3 CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8caf4855-fd23-458f-ba59-6f7e6447786d CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cc4a156-94a8-410f-bc03-9ba1f4319662 CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8c8067-45d5-4100-af86-b79fe06cb9ba CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 323eb129-1991-4c19-97e8-bcd48c6d4a13 CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e823efa-7446-467d-a586-d0ed2b579ce9 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2333fd09-64e7-4825-afd6-56650ff68c0f CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b29c51f-2d36-4411-9f9b-d0066c0ee6a5 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58ad831d-fcbf-4905-9b64-e64dea2d703f CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de9c3a9-8521-4927-b2bc-232f1efdd059 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bcf7e3c-c2c0-465a-ab2a-81c33cdddbca CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c335d320-dc0a-46f7-830c-f4f0d6c5956b CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56515b7a-13e9-4cb6-ae32-518a8a78e5cf CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f4f954-6bae-44c5-a46e-0b727b40847e CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60623c0b-1691-4cae-ae70-127c83aa0025 CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc52e27-b930-4662-9f91-5ac41664ad0b CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81d5d161-2975-4385-8554-c68921949d17 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d086a033-6836-4427-a19b-492d85e5a81c CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 010e93e4-5226-4da2-955d-2271b65f68d1 CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de731eb6-97e8-49ee-b6c8-969cbc2cc8ee CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c50e7e0-af10-4327-bd3a-5228c3902ba3 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a57195-4f7f-4d5a-859e-efe65da5d259 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f69dc15-de04-48c7-b540-608cfcb487ee CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a298fe-ecae-4ace-ae2b-cb2758e28f9f CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43124d65-6842-4393-be91-32578eededdc CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea02bcc8-23ae-49cd-9acd-be178b660981 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cfd841de-c1cd-4d64-8d63-feadf2de650f CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1f1d39-2dff-411f-9c41-29ffc656c8ec CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ea81283-a02a-4867-baf7-e6c0dd51d0d0 CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cfdce5a-6822-49fa-a8d4-78d13a190e84 CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e656cac-4975-4540-a1ff-aff3b2467dd9 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c42561-5f18-491a-9685-a326f51686c9 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1092c499-526e-4117-9aad-aa044b8168da CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c2b322-2b01-4ef0-8646-3d490cbd4d0e CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a4092f5-0858-4b67-a643-1bc92a2e0bfe CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed17670a-7505-4c6b-bd4f-c97886f45abe CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f78803d2-b252-46ff-83ec-2d6b92188496 CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e860379-a615-4852-a880-cc112f0cabb8 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a79f053b-5832-4e8b-b652-f9940f243269 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24307eb4-0134-4d70-a743-7b9a517f72ca CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 172f57a1-3539-477e-9caf-31eb9aa4b093 CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3d85ce-54c5-4570-9ba0-9815d2a181d6 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a1b5d5c-ca58-4f8e-a6b5-26d14ad4623d CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca57fd87-f5b4-41c3-afd5-606aec8e533c CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6aaf08e3-76c6-4d94-a3d1-0d8f1e6296bc CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0a17d3-b288-42dc-98f3-f5416590c033 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e4f4e20-b71f-4e3e-b8c9-be8ad283ba8e CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe9845c-9c3a-487a-9aca-f1e85a5dcb83 CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34575d97-0aeb-4de7-a8e0-33101d94b2d3 CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13adf9f8-3c0c-452d-885d-0600266e54d4 CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1eba49c9-71ea-4bd2-90f4-8c4de9afdc07 CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf4a09d-b8d4-497a-823d-7d6b20951c24 CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14e699c1-2a19-4854-b7b4-d5e8bb5386cb CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae457039-fe4d-41d1-9f77-0c7c2754085b CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50b9eb43-2f16-4fa9-8b3a-930facedf296 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777445f4-2f11-4cf9-9239-2d9042c2eca4 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2865a8bf-89d0-410c-823e-beba18f32298 CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6286a61-6242-4118-a940-4947d3549f72 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88a3e76b-d6f2-4529-b495-a0a90b2a3534 CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48985f3f-28f8-42ae-a27d-606f4f494e30 CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29d643bb-9667-4920-aa2a-ef6fda0c74dc CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e26093-3ef0-499a-acd3-deb7f299b532 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57771639-3f1c-4694-b82f-3ec68f491881 CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a5f262-ef22-4281-89c8-6f7a66efc344 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a36d2c0-f6a7-4c2f-9f4a-18409b836d82 CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa9f4dd-dc97-4c2b-a147-b27e2b0700ad CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bb46fa3-dcb8-4fea-8fe5-80290d02c3c8 CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc13ff0-12f1-40f2-95d3-891411661dda CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a6f8029-689e-472a-ab51-0203323c0007 CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af685e7b-015e-4f3b-b0b2-713461a4a66b CLINVAR:425863 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63c88382-399f-4fa4-9cd9-101fb3692133 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c55ba7-bede-4c38-8d6b-6642e5a26e53 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d97b18c8-8e18-496b-81dc-fba8c8abe9b3 CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ccc0d2-a07f-48e7-a685-f9af38e9d156 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2303bb7-fc19-45af-bb25-dc03e8329340 CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea314bc-964b-4675-83b3-782efffb10a9 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd476654-522a-47fc-b241-f298cd29ba7c CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5054b26b-060d-42a2-bc7d-73184aff8422 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25e7c544-ad6a-439e-8c19-1c32ddec062d CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82289fa8-30e5-4dc3-b52b-9f6fcbe2430f CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10e4cd7d-01b2-42ff-90bb-08b168638779 CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a20ce35-6ce9-4124-81ca-51878c808752 CLINVAR:425888 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80974ebf-92da-4b16-9aee-ab0304886dc1 CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdba06f7-8883-43df-8261-c976428cc1c4 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be8306b5-0e55-401e-adc5-98b7b0cac85f CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be5c2c5-aabe-416b-86be-6fcd1d63b109 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9674c263-d4e4-41ff-aabe-03c0de76ebe5 CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d1791b-f6bb-404f-aff9-05a6f4455166 CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90082f50-4f43-4169-814a-a75858403e8d CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82202cb5-8ca1-4a75-8f3a-f635a529eb8e CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52ba8d73-6fc2-40df-918f-9c7fe5e02129 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461b7d29-164f-4b68-827c-272cbcddb3c0 CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31fc2f8f-9bcf-4552-a853-1b1047cddb1b CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d004a2-85aa-482d-9136-06fef0ac8013 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed72372b-a391-468f-97a6-8aa681a95bf0 CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f478bbe1-b491-4ac7-a54d-4d17ae767ece CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74ecbe00-759a-4d11-85db-7cca52bdee79 CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798d3ebe-ff9f-42dd-ac00-c8579c1710f5 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 176a9149-5e90-4e14-88ad-b42e217eccd6 CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bb6847-9849-4988-a1f0-a16c7a589a04 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd9477de-094a-4aaf-8c4f-ed3e8facc2cd CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea393960-f5b7-43a6-b01a-922567fe93de CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baaac2e2-b156-4c7d-9c71-4c69e55f1d6d CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305c9608-a23b-4e65-b1b5-983e18e24417 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3b0f7b1-880e-4c31-a4f7-698d60e7eadb CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3b4381-b899-46de-9e0c-04fc2288a6ae CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05d900e6-8ec9-414a-b9fc-8c6b1a1eded2 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8082f8-78d8-408a-93a4-30ea16d3795f CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 185c1bfe-8973-4416-8c46-c24d091ecc6c CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3306bf4-c6d6-4d88-aef8-ba9f682cc5fd CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bed9bb2-c593-4682-97e8-ad1982ed2c30 CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b500dd94-8dc5-4f4b-93f7-353d6801d9c3 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ece8452-87cc-4b27-ada9-09f616fee406 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894aa791-a5ce-4a26-b8b2-a8a091979b51 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06633eb8-cf85-42a4-a830-3738ff9ee884 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c3df01-e13e-4f79-8021-91536abae315 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9ba15d1-3acf-496c-bd7e-7aa0ff27c6db CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db46fe8-6bc2-4b40-9620-5b3404b412fd CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 810d46b9-cdad-41e6-bac5-3369bdb6faaf CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74bead67-9d0d-4eea-816c-528a3641fae8 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da9fb268-f923-4ff4-b2bf-ff40730d1fca CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15956b7-6b0f-4d52-9b7c-82df044eafa7 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9feb6b38-a32f-48af-9f92-01d854eb5a8e CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81c4631-157f-4f26-8fc7-d6ae35c22d14 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfc8ca5f-ae63-4a70-924d-d17e7104928e CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd55640-9550-49e0-8747-22c8a6cce8e1 CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c47d489-5c5e-4339-b618-dbdf8b0dce84 CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0571857a-4b51-4725-a96b-7a4b55baf7d8 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3144311c-c0ed-44a1-a47b-0c094e39da97 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac3b360-ac00-4a0f-bd7d-0c53e4802cb5 CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09e8be09-a057-46b4-aed8-c7fb6b0efc18 CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b66bbb-703b-4a1b-ae24-60f5279b538a CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 767d01fa-0450-4075-b4ff-43ec88efc8f1 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2698a0-3647-4005-a1f9-6be5d105aa05 CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6816331c-3878-4f1f-b57b-3ccd6cf4a1cb CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16c8195-0dbc-48af-a3c6-71009e536400 CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c16b1ee4-ae5d-4f4a-b702-f4ae716cf07e CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a48fa96-1fb4-4014-93b3-2bb18ecb44ea CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a151e40-e72c-4885-ab1d-57094e4b5f1c CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e4a4bb-8e22-46c1-baa2-d3ac35a91c1a CLINVAR:2035290 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c553c023-3e4d-43d1-95e9-b19be725a9cc CLINVAR:2035290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ec09e7-cd32-461e-a728-69c2d0bd4829 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50e197a0-2653-482a-970e-85260890ae1b CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a712bd0-3edc-4d1e-9e97-0131d9d43234 CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 064a9204-2dce-4172-aee0-b0d2b40110c0 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c43e91c-842b-423d-b807-76568e57053e CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deb65429-a756-4057-aabe-6a87fe05d5b1 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfa3fdd-73f5-4cba-a886-7c69e031ef00 CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1699e16a-ac68-4e1f-bedc-59d4094dc3c0 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd063bd1-c196-453e-8d3c-71eda9f007e9 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f5df5c0-c630-407c-b533-290f91f3cb9f CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74647942-b875-4624-a6b3-5dc192e05b59 CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6850776-2b58-4c84-9004-7758ab5ab22f CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b544a3-d053-47cd-9094-9315c9118283 CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38be1e8f-4293-4a1c-b356-6f22fd8f0ab9 CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d63d169-9dbc-4061-9192-425330b44859 CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dcb4036-b003-4f1d-9ffb-a20768fb6ce3 CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fd92c8-417a-4af6-b724-248d85acdcb2 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00b57579-84ab-43e6-bc2a-d583367a8463 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888f00dd-a30b-4cca-adab-018fe545c23a CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd161b1d-4e7c-420d-a754-49680b82e1b3 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1def83a5-4df8-4e59-9e3c-41dd9148ba62 CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff19f98-906c-44db-9c46-9a52f7098367 CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf9f44b-6311-450a-bab0-b4a904e0fc0c CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62d288c5-4d13-4fb5-86ce-166519a4994a CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9541bf9f-f6fd-4598-8b56-b238e0f55a40 CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca6ad1a7-3056-40bb-a04d-fd792bd37982 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe320403-651f-448e-a057-3a925e88dbeb CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdf0bd3a-d194-493b-a98b-e30f28a833c5 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f85108-f170-4706-84c5-93df0c411339 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20916887-c4d0-4a5a-88ca-809828ccc01f CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a08118-1a7e-40a8-a761-640761a3b96b CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efc23ac3-95fe-4d0f-b654-b43a727ebb2c CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5831f7a-c942-4f18-9181-6c58680d0f35 CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e20c0cdb-5158-4da3-946a-743ba70afb4f CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b4d8b2-bd42-44b3-a83e-684f26e2bf62 CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 265ea74c-83b5-4531-b96e-65b744496f03 CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54141a5b-9a80-46e7-9089-dfb21240c8be CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74257a24-893d-4867-a232-49cea690bd22 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9af8ff9-9766-4465-99fa-fa83a7664bb0 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0af23466-1170-4019-b6dc-03798f4e0497 CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980008a9-be71-466a-aeaf-847d42deb3a5 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a36e100-9081-4c90-a5c5-2856e45bbd55 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2b6b07-3210-4ee4-abe8-2dee5134adec CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aea9f7b-6fd8-444c-bb03-d8c40a2f3dd1 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f02d66-f966-405a-bc17-66d2c24aaaac CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb72c44c-7eee-4d22-87f0-db4cdf117991 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a7c8b9-a4e6-4f1f-9b09-f9b622ad5294 CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c9b3ab7-9aba-4185-ad81-e5f0a680434d CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f8ca40-f548-4355-b3d7-d99fcb281170 CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dfd1472-02ef-41f3-b2dd-073ec6d0dec7 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7347109a-f5e0-46cd-90c4-fb92f51d6d29 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd8c095d-cc29-45d9-add6-3753dcde5fe4 CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707ded85-ef8e-412c-a5f5-d87226156ffd CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7f176ac-189a-401e-b55e-89809bf28cb7 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9989c981-4da4-475c-acd9-46540282b0c3 CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03dc435e-7142-4a3d-96ec-0f9254118c7f CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a40dd9-7155-4b84-95f9-8627ea251ec0 CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4f4ce76-0291-483d-b3ef-2f3f43dfd2ef CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a36a3cd-2607-48a1-ba2c-5040634ba7e6 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eef57956-45ff-488c-912a-5e9ceddf5ec3 CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92475190-9aa2-482a-931c-d638cf1c6dd8 CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf7c1b4c-4e94-43f8-b515-da200d8bae9f CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088e33fd-7892-42c4-93fb-1bbd606b2f15 CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90aab905-18e1-4e86-95af-7ee85f7f4996 CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178c12cd-a3a8-4811-a8d1-01511d3d979a CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09630bed-63e3-48f5-a86b-12c796496a01 CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417016ad-93dd-488b-b1a0-4650edbc8f86 CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bcfc556-b185-45da-91c9-afe3268b5a90 CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecae2f7f-0c36-4754-8efa-e69934ae6dfc CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eeb6f95f-e068-4462-a2a9-6e2af9ab0f7a CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc25791-edc0-4109-9b12-cd1a7e6919e6 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69615fcd-5672-4f44-ac73-45e5b26246fa CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d3c9aa-9368-4560-be13-844ba842c77c CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d6de67c-6b79-4df8-b771-3eccc9785bac CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a84cfa-b96f-49f7-9931-7ea96ca18f57 CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03244989-396e-468e-8e4a-4ff269b06d5a CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9db4d8-95a2-4fb6-b255-fd9ccbd791fb CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be35d940-e79b-48fc-81be-a13ca86d51e2 CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85995934-a412-46e6-ae99-b6511622a474 CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf23d68e-7f34-4e08-9936-52abaf7bca00 CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b5a9c6-5509-4696-ae64-9c3796c9e204 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2940136e-0a0e-401c-b7b0-639192abfb89 CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c62012e-bf62-44bd-92eb-0a082a8822b7 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89aa2e23-808a-43ca-ac44-e95aadb20a28 CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb05a0a-6372-4f3b-9974-fb66c46829c2 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b98c923a-841c-4ea3-8505-0797541a0ab8 CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2341c2e-a2cb-426e-96a7-0c8f229c9670 CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 621e51b6-bf41-45b7-bb55-d841b5194749 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18cf661-69ff-41ed-aa0c-f7197c804225 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 802e555c-7d40-4704-ac94-142e53d13119 CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b56a69-a44e-448a-a6f1-5b64a28d0184 CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c026dd09-669e-4593-b38e-40651c62c703 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78fba114-84b5-4d51-8a0c-555185e00b97 CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32320f7-3758-445d-b9c7-00c13ddd5ceb CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5647b49-7a86-47d9-a41c-4eb1febc2851 CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17577ad0-bc1a-41e3-bfc0-65cb5b09a01d CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b37400ee-d8f2-4bc6-92fd-3b8185b65fff CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b556d2-6ca0-455a-8b4c-328c6fb32ae6 CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cbce0f1-2310-4cf9-8caa-2b29f09cc493 CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efd4756-ad4d-42ca-9c11-76650783bf29 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4d8acc9-0835-4be9-bcd3-288a3c477574 CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed593c1c-bcfa-41a4-a385-7fe77edd2579 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9014aa7f-c7cf-48f7-b639-8a9d751f0c1f CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a740e50-c07a-42a3-ab39-2f0396be1986 CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b251dba5-84ca-42f2-be89-09e3c0549b87 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae59b70-fb9d-41ac-9010-bd4c8e9945ef CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b9cd621-0848-4f0e-a00a-4388e2963e3c CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72696cb5-9501-46ca-94c5-451244221668 CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 043db5fd-ce18-44ec-9986-a563f3ddc088 CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93f7655-59ee-4edd-a187-5143937d8b1f CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51623e05-ea63-4782-b2aa-0e5807f6be65 CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61af5d9-7e78-40e8-b205-3d5f9dc3e620 CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4aacf1db-0b2c-4c64-98c9-956de3507833 CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a367a8-c567-4ea4-b8d1-05151f184eae CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f838c545-9654-46af-908b-29d00a41eeb8 CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcc8a65-481c-4748-a27f-c2bc4d090fb5 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17b51617-ec05-4daf-ab6f-16fd71ad329a CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569f57d3-c4c7-4117-af5a-c80059442b93 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 688b2b26-9011-449f-a8ee-8e4144c54c5c CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c71a06-88cc-47f3-b0d1-2eec5ade1ea7 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d799336-352b-4006-9b04-f383d5bd82f7 CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174159ab-73b2-4c84-8976-57e3cdd966aa CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d077f153-79e2-4153-ac6d-eb2d91911bd7 CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57389020-8a1c-48a1-9aa8-18b6692e4401 CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96fe013a-6fad-4a4e-bf0f-d34766594e36 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79f87d2-a361-499d-835e-caa7f31c43be CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bdd90fb-2b94-4d2c-ae03-ac690b834d2d CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d538645a-3d09-44b2-9644-d29e83369761 CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c2083ad-241a-40ab-afd9-4baa634c6c70 CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c47638-a586-40e6-ae67-b0da2b533128 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c957bff-6585-4c9d-82c6-c2b82f465cbc CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c16738f-7724-4a5e-ae63-f102460accbd CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3e56b3c-efc1-4722-bab1-3a441901c2ef CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b584f1-0c52-4054-8f49-bca11b031d0c CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcf9c218-7ad1-4daf-9046-f52c5f37b632 CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9623c5-9c36-40a0-8ad9-86f1cb38e7a7 CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43b10d98-8f70-4bc4-a488-e355efc7236b CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c37a8785-7ec0-4f2e-97c3-e56d2b433d37 CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6df86858-feb4-4cb2-ad87-4223fae511d3 CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d881f34f-602a-4da7-9747-945a97fcabf6 CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d72dc078-0331-46f5-a24d-630f33711c6f CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36b2e76-9be1-4f6e-8610-40b812670b1e CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8fd921c-21f2-4790-a953-49623cc8ac16 CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71f20b8-9025-404d-8d5e-1183cecdedce CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9f9660-3536-4861-9f3e-e89d674a4fc7 CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b0cd92-ea08-471a-bc4f-2742176b43a7 CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02b63b1b-0a8a-4008-9839-dd6fa77208f0 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44dd60f4-4977-4c72-930e-75a50bdf2837 CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fc7053e-0c06-4e76-89f1-f0cee92703ef CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e065dbb7-9548-46e0-8524-b6549cce3400 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 236aab12-7210-4143-919f-5cc0256dacf4 CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4820ff9b-d5bc-49e1-a803-cdac73cd9d8e CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b35db7d3-f051-4902-b7a3-f074dc59e702 CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57745452-e12b-4e6a-a49e-510a75012998 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08e40efe-dbb8-49c8-a815-298a5f023cd9 CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce774a36-01b9-4dc7-a60b-91c616b03bb6 CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 465688f8-2046-4456-8f28-3eef51ce2c03 CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c5bd2f-9dfb-4cd5-a99b-7dd81327715e CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f867b60d-dd3e-4642-93f5-20c19b262c5a CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d302ff6-77e4-4dd7-ab75-8189736ff5f4 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b25d4425-7d9b-4bb2-a39f-75e7f4906b24 CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f6ccb5-ec0b-4d34-a3ed-7d7cddfa92a1 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91c47cd0-e63e-46cf-812d-249b4845df2e CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f327d6d7-ca83-489d-8bd0-840cc73bd9c0 CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e5725a5-8742-4a13-bb14-9896421fdeb0 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81943f53-abbc-4573-8e2f-6835fd5bbc41 CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3baf4269-18c2-4f34-a2e2-db2db5afaec9 CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc934039-70ba-4953-be08-a929c0747117 CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec3860e6-056e-4314-8837-a8d4a4bf3458 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a39cc58-a82a-46b3-a891-9ad671d8538b CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41c8a066-edd2-4b81-9819-2927b9cc8d14 CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842d9090-d517-4d40-a723-8f95b6dd1474 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3b37746-73d1-4d4d-a79f-14a27dd146fe CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15606208-1278-43f2-a6e6-4567f244aaa5 CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 820c5085-bc43-4377-8de9-f196e572a30f CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1b25f3-157f-4899-b276-61d173b9b7ad CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68a73b1a-dcb1-42e4-a9e1-3c4b948ec0e5 CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d284c3d0-509c-401c-ba7f-107fddad2f7f CLINVAR:1051987 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7ad8e4f-c15a-4f42-9366-55020f112afe CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d892d5-9bf1-43a7-a24b-1f3b0fecc1b6 CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e9785fb-86f3-448c-8302-ccddcb4449d2 CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f45c71-c491-4528-93c1-4617e715dd0e CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f14ae6c-3c87-480e-83e7-ef3a41ea2aeb CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3f2d33-4411-4230-b2e2-d6e1aaac75c0 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65713162-e8e9-492e-8eb2-d3fef0cb226c CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3632ad-d0ea-430d-9bf6-af5053e76390 CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f92546da-8ce0-4d1e-a3be-3e51b5ceae88 CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08a6861-043f-4a6f-9a85-1e340115e070 CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8b915b6-a9eb-4590-9c77-edb6538d7abb CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88885153-5f0c-4365-a532-8f8b13c2e7d6 CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbce7600-900f-450f-8179-584bdd1857a0 CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374ca0d9-7ebd-4f3a-b77f-f7039440b158 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 679c6a74-c70e-4f49-b393-a4de42fc5aca CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0997570-ef92-4da3-b5e6-ea6792227ca3 CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ee53b02-0ded-491e-aa0a-7493d62dd10e CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fb08f2-f185-4b99-8ed7-103feccb2246 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72918e16-dd50-400b-98b0-fdc740d03803 CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49646d4d-9832-44dd-a369-a66b012aa1f4 CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43757c11-23f3-46aa-948a-5512ae04266a CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed53273-f890-4fd8-9e8e-991214067e7d CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8774e23-567f-4f40-a0b6-465e8e4cc988 CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6610263f-2457-492a-b164-5967d7d3e8cf CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63ec8ee4-d5ee-4f28-8cf5-11e94600979a CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd86c0d5-954f-4a59-a731-0360ba56e1af CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f64edec-93f4-433f-a956-02c4153791f5 CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea203da5-b60d-4c04-8f08-a3828f9d7cd6 CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d5028ec-6359-454f-b791-eef9f3903965 CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a4d1b7-8a85-4e66-ac26-4a19737d4365 CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dc21adc-c462-4f28-ac4d-74d4688f618e CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b59b43-4efc-45fd-a6b3-095664bbc6a5 CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3128e77e-fcdc-4108-a956-9ef5d3fc3243 CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f6c109-da07-456b-8c7c-3deb77bca4c2 CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa8c63ac-24a3-4be3-bcc5-f37926ac2bb3 CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3529e6da-8d79-4e8c-9f45-030a26ced4ec CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 503eabb0-070d-4aac-8245-6c954696bc94 CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b56e46-71ff-4b7c-aef8-db34ec8492b1 CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ededfb16-79a7-4faf-9042-75d17f94edb7 CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1617bc6-0992-4db4-a325-a96146519c0c CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02f3b30a-50bb-4c2e-b194-06a462c24c1a CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d56b1e-3df5-4869-aedf-1cbc72a50e81 CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c419ac7-7f7e-45a0-961b-565c1d39c49a CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ac2aa3-1fe4-4915-96bf-3a1c46237f2c CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed141982-5a9d-4ddd-97bc-5a03eb12babe CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97312bf1-4191-4018-90f0-5a8325eae643 CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4eeb468-9e6d-4e13-8830-002dfe8461b6 CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac40122-297a-44cf-ae7c-8b66c54b07f5 CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bd51f8c-2d18-49f4-b6d9-fc1b8ce355dc CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b04a68-f46b-45f9-ba14-35d1480fc61e CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b59e82c-2b8b-481c-8b79-2cd54efe14af CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356e9952-66a1-4d03-8056-e69b2582b7ec CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c7ada4d-07f0-48c6-a181-3ec73eda955d CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbcf2b7-a96a-49ef-ba04-ac47c5ad2325 CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed36c591-849e-4737-b8b8-1bcc900e09bd CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fec60a-1b85-499a-b7fd-82d6ca933c3a CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bbbe555-7cf4-4f4a-bba7-10d2208a93dd CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca6a029-9e08-4289-90d0-fbbcb3508f47 CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f16d046-e9d6-4032-bb94-8b3143dd603c CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e526180-2df3-45fa-af2f-5b762b04155a CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ab968d9-c052-4205-8bb0-6a6e9fd3a843 CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf88d33-f232-4828-8dff-e168d57e084c CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045d11a0-8204-469d-afb9-3af29570c45f CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd15fe1d-cfcb-4d20-8cbe-4e7d7c950940 CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3618517f-677b-4f29-ade5-3603d54efaf0 CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f6058c3-9727-4b34-92a5-ab2a8b1e05f2 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47d9443e-63d9-498a-bf87-df3b85bc53d2 CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efea3368-dfcb-4460-bbba-3f3b51b609ff CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b65cf0b8-2fc8-4a72-9012-252b8cfd2749 CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b6f835-08f0-4461-b512-c3ad5fd244df CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3a70872-dc83-436c-b9de-0473a44f24ea CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93110d33-b3e6-4fda-9943-99da25af6b28 CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7dcee8f1-bbe3-42e4-b503-e455681b26c7 CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a079506-87fa-4c1f-a514-395faf609f6a CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fc1a545-f237-4ffe-8661-35b10fa8f51c CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e491d9-6f16-4502-af58-12e9f123259b CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db2672c2-2cf3-4172-9bf5-5b843d6e5561 CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b35a7c-941d-48ca-86e3-b5f4ee57f4d8 CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af2937a0-fd5c-4cb0-ae3d-a2424f5d920e CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e173aaf-26c2-4560-89d7-7fbce5201e62 CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98f81fd5-4b1c-46a8-86f3-eacb10b9bc9e CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080daa59-347f-4d28-be09-71a0e92859ac CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 011ba692-c516-4569-8663-0bcba135101f CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bf1d58-f51f-478d-8ec2-a4ff68501e35 CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b2a5153-5fa6-49ec-8da2-e9dc754986d1 CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddd3983-873e-49dc-b675-fe36d6a7bf75 CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4881ec86-f6d7-4b92-90d8-e7c5e9d09fd4 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79a4122-25e7-439f-b8b8-54ffcb36da90 CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c7a16e1-6255-489c-9ca0-f7e743b9bbd8 CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26962bc3-9d39-493c-a50b-9ca44864448d CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a68cf7ea-6052-4fed-959b-3a6c21b85135 CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1a9356-37f4-4ce3-b526-fd7c22ea2a3e CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f26a1719-8452-4e0f-8bf2-1018ae7f4144 CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1af7f7e-1e2c-42cc-8f4f-e8036e975c3a CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c05351e-de36-4cbf-a60d-d9dfeb12999c CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0449354f-90fa-40c1-afad-f48d45633831 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c2a74c3-4a0b-49ac-a53c-2942eaec27e7 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12859e4-3ed8-487f-a51a-907d3fdc4e7e CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b379a04-1817-488f-a955-9549154ab11d CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6530ca5-3750-48d7-8f11-7e760f3b24d5 CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceeadbf8-5e68-4737-bd9c-1634192fbd42 CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5aa0d6f-4a70-405b-b81e-c016f633fae6 CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59899900-ceb6-4816-8a78-1d22e6053167 CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29acb76-8685-4519-9486-c82e4d5d1c05 CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7213b55-eff4-404a-98f6-56b3bfab5b1e CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b313ee3-0f9a-4f41-97f9-032a4d35894a CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 324fd878-6ff6-4619-b915-696ef7600667 CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b144e57d-1b30-4eba-a4fa-8eb2205f54bc CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1896e758-c55f-4ad6-9364-b6715bde20e0 CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3029af8a-0978-4ccc-b3fa-85ee66d2b214 CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42e95fcb-16eb-45de-922f-4e268b22d50e CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571282f0-3ebf-47d3-af8a-8325464c7138 CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28024fce-0231-41b1-b438-058434a7fae1 CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dab20b9-ac42-4d01-819a-56dfa81e3d03 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d2ccb04-c730-432a-9d27-74c1f4bab53d CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a94b1b-83cb-485f-a109-179038c2903e CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f112652-4f4b-4252-84d9-06fad74c2e80 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5101d034-6aa0-4f69-9600-15d16e981b4c CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8b3442f-0031-40fd-94d5-e2296bc1c044 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c52414-f49b-4aac-8ccd-48fe224dc2de CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c14a8e7-9994-473f-885b-8e897c560618 CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ce52a9-2802-4190-b3e8-18921e876ac1 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 906403ef-4318-407f-ad46-16e313e14c23 CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3aad34-4d65-47b5-b23e-7f1a1c63301f CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad652c54-662a-4a31-9250-e305ab60d81b CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f849a7e-3f4f-497a-bbf1-4010d3a4f61a CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15623dc8-3253-4729-bfec-5e8a48fbbcea CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce0e53b-98e0-4cf8-b5e5-16d87fc4e106 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7509d1d-30a2-496d-909e-34d931af2ef0 CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91430d1e-57f1-41af-ad26-5d0c82d726da CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd8f9102-ce1c-4e7c-8fd6-6ff5bb523fa6 CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad42cea-2d5e-4935-b8f7-11e624efc9a2 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36f79b34-e900-49dc-ae23-c32c4fc5d53a CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6c52fa-bbbd-4270-a44c-98c848cc9f37 CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c317e6ed-df80-4d7d-bff8-ac780d01a546 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5435b807-cf39-4c6d-838d-7ff44b401146 CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 894683df-2003-47ec-892c-8d17a64afbf8 CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b673fac-2a8c-4f51-a426-45c1875451a1 CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3100ee4-7223-47e3-9412-afec09677c6e CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b877ab1-3a83-482b-9bc4-e40005d7d425 CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d212f6de-01b7-4a7a-8677-e41c009b3ba9 CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf25493-8cec-4080-a1f1-f3e7cf5de347 CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09d048ae-ea9c-4900-b003-4fc6569c2670 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098cf419-caf4-4233-b3dd-c939c0ca3936 CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d35d687-43d7-4c02-abfe-355ae2e0a6bc CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb153b4-2378-4b21-a317-9d4ca48cb74c CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee1d9b85-ee80-4060-8e2b-518ce1438280 CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9e2501-6630-4477-afde-f01e74ed924a CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbbb896e-c896-4e67-aaf9-96d9ea35492b CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0879e026-e90d-488f-9f70-782004681a3b CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8117a14b-6a4b-4fc5-98da-c8b43a0dfbe8 CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1caf98-ddd5-4602-8a49-418fa8a5ebce CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1b870d1-1cb4-45db-9fac-007d140ae3cc CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c087d5-0678-4ba2-9687-209b847aabf5 CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9e1961b-3f63-445d-a157-2b9d49ee1465 CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3271364a-9ada-4c50-81ff-c2314c600fc8 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9738a25-4507-41e2-9cbf-fd5f654992e0 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5387a49f-2042-4a8f-9c87-c88b0d0327a0 CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25e28592-92f9-47b9-bd16-ce07e166f1ae CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dfde9a0-5e25-47c8-8e12-681ba54566ac CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad9bc624-e82d-4271-8dcf-fa33242c9083 CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd529a7-a55a-4a57-95bc-5e6e1eef55c2 CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 454f789f-73cb-4e25-aef2-30ca3b528dd0 CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca736108-bd39-4439-b3ab-0fc2b4653b89 CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddc5309e-fead-43d5-b03a-8da1da48633d CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d062563-31cf-45d6-a1d8-31c5dc579670 CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6cfcb4a-b491-4e01-b734-d3678e6a89d7 CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657c8130-c227-4ef8-bada-513ccf28b83c CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4783fb1-93f5-4e67-b97b-02423a4b4c69 CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98d96f6-45b5-48e8-a2ec-fbb65c5b768b CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b147d25-bec3-4319-8150-1d5f930fdcdf CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb38aa2-c945-4a02-935c-70a0f5d5188f CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f2ac364-15a1-497e-95b1-34706a55a691 CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2992c6c7-92ca-47e1-a3c9-0fccbe53262e CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9b6c532-7d13-4296-8ab9-52bd95af62dc CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2010b089-f3f7-4aea-b5d5-11f3e7243da0 CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b101285c-f9e8-42ce-9ef5-5be442c55c4a CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90d89ce-786a-493b-9936-510174725c24 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06595433-21c2-4a78-82e5-2a70ec88d21f CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cf6ef2-4f04-44a3-aedf-6220e4ae9cd1 CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7824350-c440-4e29-8acf-f60ca107fda2 CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c543ee-f1a9-4e69-ad4a-b79b41f5af2a CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 939a76eb-7088-4c6f-a081-593bbf317357 CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfeb135e-8338-4132-bde9-8473f7412b1f CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5f02443-dac1-4a46-9305-408fa793de99 CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5ebce3-ae4c-4aa6-abb2-3afa0f426f64 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea330f2a-fdbb-4078-8999-a3a958474b2d CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4555a608-612c-4744-9b59-27d084cd41c5 CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7415cb21-35c7-49f1-9083-bc431cccbe1c CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b334d7a-d361-400d-a2ba-84dbe6095f90 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1094fd1b-812a-4d5e-afcb-e83d9411f2eb CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708292c3-8899-409d-8556-7e61a987ee2a CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a04c268-1c01-4759-ad42-696fe2c6251d CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02df064-344b-41a8-bfb6-e09a4c1b0928 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cb9e6ac-59ac-4afe-bec3-1d06451a71fc CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5fae7d-00fa-4462-a81b-54a541700a5b CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7836ce7d-06c0-4e92-a228-4016deae6f6a CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe75530-6aa3-4ecc-abfa-94bb1ebf6ee5 CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3ff4a2f-220d-4d75-8eea-338594f6f395 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f34d24-e373-4d8d-beb8-153f6f178a50 CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 740bc0e1-cf01-41a9-a96f-52c676517adc CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6827dcd7-b3e4-41b1-b5c4-761e2140897f CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bae89f3b-654d-4f0f-88b6-0c02140cc57e CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ee878e-b304-4efe-91de-42945fd3d8ab CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a7a3b53-68d5-42b8-a853-4c5ddd593d6c CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b63b0a5-a8a9-4e61-b6f2-135ff9a852e5 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 379721f4-b22e-4d73-8827-0434b43b47fa CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4941793a-75be-40e5-986b-99d855f1a2a4 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82083f0f-ef01-45fc-bf4f-6d23dcbd876a CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc8f174-10e8-4c79-abb8-9f11d38d4f7f CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea2ab5f5-ef2e-417e-9f16-78d16da2f457 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c50a313-8717-495d-9868-587a5cee10ae CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen facebd6b-929a-4ae1-b6ac-34bbb2db5d68 CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88cfcb99-c20b-403c-9b14-405ad4ffa2eb CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdbdedca-1ed0-4237-bc52-548fc396e3c2 CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901e0463-9203-4433-876b-e3bbf2f7f1c0 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bc2a780-92e2-43f5-b3a2-fb9db8311332 CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b138880-29ed-41b0-beca-2c29e2f99903 CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85dd8b8f-2cb6-4bb4-8ad3-da7dfd81031b CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9658ac-b114-4fd5-9bb0-5805f2c85159 CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07fca791-aa63-40f1-bbae-5c791d14520f CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c361565-d1c7-4c0b-82d7-d4c5eb7f27a9 CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f38949ae-94d5-4df4-9115-5a9abe5dc2f8 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb07ef65-4536-4ba4-b44e-cb4f8e01d65d CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27b32d14-0c77-4958-a07b-9d430d10f926 CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ba4b40-65fa-4005-8467-26cf7713aead CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bcf3a071-daf3-4f1f-8d90-d15e3cfc76be CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f8ef07-aa18-4185-b187-626856972dd6 CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13b53d3b-3456-4f84-bbcd-7c7ab28ddd29 CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1218729-cfa1-41cd-ad95-1cb1764b1fcd CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0101978-c341-4e7e-bce4-a47ef7d1ff9b CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5baec2-e05d-493b-ba78-2e39e1d60e78 CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6226051e-7cf1-4219-8196-7e8ccd2a264a CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b124821-9993-4e22-bcf2-3be012a3b278 CLINVAR:569548 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 153331a7-26e5-4e97-ae74-bdc6e2bb380c CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deddd11-0801-4ef1-b8e7-bbe1db7a7ce0 CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdbcb86a-1130-425b-b796-c4c2d0496046 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c39a61-daa4-460d-8061-ea1081bbf911 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60943570-ab86-4960-a903-7a117c8aeea3 CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb2ba55-ae73-4466-a241-3ab9ccb84ecf CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67481a5-254d-47d8-a047-e4484f00fb5d CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151fa13d-f12c-4051-80a0-d1025ffdb70e CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8fcc725-a11c-4b72-ac2e-11eee6dfec04 CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54d5282-2f5f-42d3-8b66-daf2b410b976 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3116f0a-1b35-448a-90d7-92b4cd9d784d CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd134fb8-7fda-4aff-aff1-4fb7fb19f6f8 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13a5bba2-389d-4082-895a-3156dd32e815 CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bfd8a0-1f14-4c26-b2bb-fa050067581f CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 986b2423-47f4-4f62-aa5a-e380ed4f3aa0 CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6577e57a-1a14-4a18-87e1-53de6b0d69d3 CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c82322c-a1d6-4f66-b23c-8ceb77bd196c CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263ffc9b-ff9f-45ff-8a92-0727a5879c96 CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a48797e1-6233-438c-a282-86ef45ebcdcd CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b20f43-865a-489f-ad49-86baf12c86ca CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 855414b0-af95-4f19-b681-fda64f88d875 CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e4a356-a988-46ae-8b9f-c9146219647a CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4045ce95-64c3-4647-bf12-51cfdc13c782 CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710d8d76-e997-4a48-a601-e01bb66f96ab CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4e09630-b5bc-4da8-8db6-c125175ea34f CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4910c6d6-4ef6-4a02-aea9-af2af47a7167 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5023455-5a43-4fda-b55f-4fd682bd73ac CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da05d27-da42-4dc8-aaf2-1ca67825a41e CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ad1b349-7256-47fb-9e30-e355d2b14f68 CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028019c6-b825-4f1e-9af3-a2b558f77781 CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1152827b-c2e8-4483-8563-d46188aff45b CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2a78e1-16e1-4ddc-99f4-63cff3230b6b CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53749477-4f8b-4de0-ae3b-ab9ce8670c90 CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6300154-65ef-4810-8b02-6e06deafe8f3 CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6e21103-6540-417f-86bd-f321f21731c3 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6469a8aa-0d3f-4639-868f-6157698ded1b CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46ba75a7-e08f-4452-89f5-b81b4b2cb863 CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a95a4e-2a4d-43ce-97a1-6eed90765703 CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8d3c478-8e8c-4439-9014-0a834af5e12c CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d0bddf-6fb9-40bc-8143-42f966801370 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c645cfad-791c-4208-992d-e9250720a7ae CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b322fd49-ae79-47d2-b492-f7b9e78dbc35 CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e9eaabe-1a00-4894-b01f-5f173ff52d64 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee1f2aa-52a8-4a8d-9451-647c5c9eee8d CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba6dbb26-839a-4f1d-be11-9a1e7c70eb7c CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45224c32-16f7-4b8e-a9dc-c8533c46d074 CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ae1bff8-eb07-4adc-a0cd-b50fc8d3e0b6 CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e009ab6-d13d-44da-a310-b1a75a65415d CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c771aafc-108d-4f07-9c20-8185062b5091 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f39e225-c1d7-492a-a3ca-57e56b47daea CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9cd1a18-80a1-4cdc-a5a8-46f8b6c45f3f CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29a2529-5779-4caa-b54a-04352f36ea2a CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8c80615-673d-4841-8baf-9562640dd92f CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f698c42-fe97-4217-9c41-9039fc6fe90b CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5de39a9-5240-42b9-8a58-0778a4d3afce CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25780cc-8923-4cae-8860-361f21a9f3d4 CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16960e6b-a385-4359-95f0-fd1ed2f6d8c9 CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27255548-8578-4f63-a41a-fd6d618be39b CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 819b629f-dc3e-4f0f-b4dd-d84610b7fbdd CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73309519-7995-4d53-a14e-9d3e3123a35c CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bfced75-c508-4e00-b895-ba6ceacd6170 CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1cfb42-4211-4194-ae15-d317dc01f526 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fd8bdec-76f8-4988-9d6a-326a68e228b6 CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 361bb4bd-de0b-4e88-af7f-518b89704d6a CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a01b4298-e466-4d1e-962f-f0feb03f477f CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33e39b1-1c7c-4f77-aca2-ed6456a5d308 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85c02ea6-651f-4ab7-b612-faed2e7acefe CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb69f0b-a9de-4a48-bf9d-a6ac7907f844 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8417ae05-8f8a-445f-8e5a-802d758d094f CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f41ebf-ad7a-4a3e-832b-a6951620d518 CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8581e4ca-b471-476a-904f-5bfca34e2471 CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1058ed-3c7e-4b7a-8c18-669c18d19b3b CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 710fdb27-6667-44d2-9652-4db53208b5b7 CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8725a488-8c81-4800-922f-2d5689e63ca1 CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bdf4d93-5dda-49d6-89c3-3d1c0ff97550 CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c822d7d5-4122-499b-8333-c0ee930ba721 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9627e10f-0436-4a18-b9e3-e2e5645c4109 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2545415-6a42-4e11-93fa-cfe4dfc66110 CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d3e233e-353b-44f6-9e68-7f6462cd9972 CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33585296-20fe-42a2-8833-9285881c018c CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8eabe9f8-1f26-4713-8b24-9e851ec8e641 CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3b5873-693a-4690-92c4-ceadc5131b39 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6daf1bdd-0d79-48d4-a224-f79f84d8cf7c CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0634fa24-7b11-4dca-8227-7b5e321f2841 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d01a0d7f-e99e-4163-93a3-641ba38a3493 CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719b80fa-84fa-4f11-a01b-fb3658469b26 CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06d86b81-2c08-49a6-89fb-9fed53971407 CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a797222-f45a-41ec-92e9-31c806850ade CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eade0487-7c46-4607-9746-efad923e7d27 CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d4b262-9a04-425b-bdeb-f079dc1ff107 CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1b0f6ec-2610-47d6-88da-4387797b8f8a CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35785cd0-5293-4317-8b98-640e88be22fd CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 760cdb3a-a3f9-4f5c-a489-cd3fd48218fa CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00000493-9d50-4fd1-af2d-c29b4fdbadc0 CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 368619d7-b9c7-43ee-9dd2-a9bc7781eb40 CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb37809-59b4-4b64-a1fd-7404bfc0077c CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 714d898a-61d0-46b0-b35d-2586a8cab14c CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9fec4a-4ddd-4a12-8c04-383a7a08a7eb CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eafb724-14ef-418d-9194-b4b516a55f70 CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca39125d-3081-48ae-86c2-2cad8be823cd CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf04c570-5866-4179-ae03-8aaa71014361 CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e8a7da-f2e6-472d-8999-144d69af4ddf CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16b29648-6c1a-4499-8445-17b7a0c50f09 CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e946fb-603d-4912-b837-81b2c161db60 CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c57aa475-38c3-4ba9-85a8-8741cf771dc4 CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17eab757-3233-43f3-bc78-56eab063f220 CLINVAR:425882 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 558364fa-bee1-413c-acda-4ec13f48c15e CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93429986-7fe8-42b1-b911-0a44a183e134 CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7d0b567-1568-47a9-9ea0-886ef565eb8c CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd10288-d1fc-4f20-b629-d2db3664290e CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4059155-e642-4cc4-af48-455d8531eb69 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ed3e7b-33f0-4c5d-a794-26b1ce871ef3 CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35092bab-34ee-4d46-aaf1-e5b63b12c87a CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ffa8ed6-ced0-4b16-9217-a42eecd4c23f CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a1b69a8-ef00-4970-9037-8d04a9af0631 CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8025066-a6b5-4ee6-b340-5bb73d4db59f CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 043061f1-44a0-4f3c-92cc-194ef746a6a6 CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5191ddcc-dc70-46eb-97d2-5f6d543c77f9 CLINVAR:812826 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e23f68-338c-43bc-8be9-d013cc069a78 CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f435e62f-7113-4150-bf4f-a4459f80a6af CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43dad2cc-fe4d-4c8f-9a12-f894b0f9f266 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f403ee-a57e-4b1e-a0d6-5e86ca66a306 CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20ffffd4-da35-4fac-bc03-f78074ab453c CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d5c0d6-65bf-4cae-a1e5-08f4f56647a0 CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4876570-b33d-43da-ab9f-2c921b2e0e3a CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a579dc-75c6-495f-a382-c6c91bcfec28 CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c72d360-70cc-440b-917d-4ec9d98fd5fc CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee180fc-8b1a-43b3-bd00-92627d70e841 CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42f284bb-05e6-489a-9d87-b70e2c804223 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be87214-881d-499d-b11d-7e93e80def9f CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d33d6547-d95e-4f0e-84a1-f10163873bf8 CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032dcb6e-6bde-4dd6-8e07-08de187cce8b CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f689ef96-519f-4414-8def-a80194382ebe CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4ea0bc-520e-4120-b71d-a99a6b02a2ff CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c111786-7506-4599-a13d-7ffe081902cb CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ebd5c0-b468-4702-b58f-73841c4a715e CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19b8b9ea-36c5-4197-8309-8b1284f95f31 CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd4dd6a-880f-47ba-81d2-77ea1418a2d0 CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5673654-9088-43fb-bf75-333fe22d6298 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c5afb3-11ed-43f4-8b79-b65073d352c5 CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e662e02d-7622-41f0-a12c-02cd62792bea CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa08c5f-aa7b-47cc-8f13-cf34a681c191 CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76c0b6f7-332e-4858-998c-895ba2e1922f CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e2c593-9169-4685-beb8-5167338fe440 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fbe21d7-c4f7-43df-aee8-6aa7aab9c0e7 CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30833004-77ec-4928-a15f-d4a145479951 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d73ae15e-7008-4103-8f00-b94815272686 CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919c20ad-6142-46b5-bf9c-2dc81c1aa5f6 CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67ecb0a6-1ad6-4139-bf17-eabe22c4af30 CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3f610d-a597-4182-931a-5c833433ff0d CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc9d0846-e9df-4f0e-a489-be3be25d3822 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578c7264-a0d4-47dd-ba1b-8662dadb4f4e CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a04f091-2f81-4eaa-86ad-101c5b484890 CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91b86d9-2ea7-46ce-a2b0-d61ee4735b0f CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2af5d864-2d1b-4362-929c-d76e1748413c CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468218ce-fe4f-4662-a87d-7881a85373b1 CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00c7c03c-62c4-4a68-9147-4c43937fceda CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa6d159-b639-4353-8a33-869a6a83822c CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11cadb84-4687-4981-9ea0-0e1f57711abf CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d0b08e-cf52-4df5-b2dc-bd51c6e0e2e0 CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e686a2d-2bba-482f-8ce6-4112a7631939 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7077c84a-1c7a-4a59-a4d1-b78ab9a0381f CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4895b12-5720-41d7-bec7-bfced0ea0c24 CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfbc85b-4bae-44c3-be4a-d24e66f8bcdd CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cf5159e-9d04-43cd-912e-dbb16d473b37 CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7636f218-9539-4b13-acbf-6ee9bb581c3b CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8260b3eb-cc20-44d4-b42c-9229288f45eb CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1246485b-d3a6-4a84-83bf-04218fd5a455 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caad04ae-d414-41b8-8738-697352cbbb5b CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3383996e-b4be-4353-b26a-d6048e6e2326 CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ff87584-64ee-4d62-98da-07e1a815c61c CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7861a7f1-a505-465b-9263-a5de4d6266ad CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 607f1ffb-456c-416a-a491-1bd2e9a9f67e CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4989792-c65a-4da0-a09f-0ea5d240ca3c CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 280aafff-31ca-4d21-a7ac-e9e0a2447f5a CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23cf5ee2-6352-4163-b7fc-fc36b5fb9784 CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e51d8a95-9ec1-4ce1-b333-f2f0137d3a6a CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428d87dd-0bb6-4afc-8cd3-2111e147ce22 CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e00302c-b669-4328-a36e-9c350ac13f75 CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217ee3df-e1d2-4696-861c-db40533aafb6 CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 337f7f8e-7a0e-431e-bcbd-cba172b3eabe CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2dfc7d-a75a-48ee-b4fb-2c1dc236bb36 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6772bde2-ebeb-4ad2-83aa-7ce0f87079ee CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79fb242-670f-4b1b-945f-b937e399466c CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09bf23a0-25fa-4a5f-a697-4b670528ded2 CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ce75a5-f01c-49d3-b07c-f658c58d853d CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f1d67ec-f01a-47e9-b76b-75380ef44c50 CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e1783f-3fd8-460b-af1f-3dd1daba51df CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ea16c73-910f-45c8-a9fa-29f200c5ed0e CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1bacbe-a309-4b90-91b8-790be823b5a2 CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bf96e88-a278-4640-94ce-8c339f1fcdc7 CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eade13e0-d0a4-4e80-9a4e-01b532d3ed61 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b131854-52f9-4733-90ba-bd8b504b0e84 CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5778f4-78d2-45a4-972c-4526dd66698d CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e0a6e28-84d8-4304-8dca-ed797345f689 CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33bf5f70-8ef8-41af-b4b2-69cbbbfc9a99 CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4aff4318-0414-4e01-8eef-00888ef31bc2 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b08941-30ab-452d-835c-d4ac9106cd68 CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a96ac88c-9694-47e9-95c2-d16e5928472a CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1743d84-1a68-4b49-a1cf-d9162553345a CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b899dc93-f109-4981-92c1-eac24fe606fc CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d137051-50be-4eeb-bf8f-d09c04468aa8 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b162457a-97bc-4aa9-8121-bf6538b8d096 CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea79fc93-b34e-4aac-9dc4-be502e11fe41 CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca7f0749-a4b4-474f-8ae7-6f7646b1df33 CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591b57f7-e9e6-40af-a695-3ba4da2eeb8a CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb0d3e58-569c-464d-bad5-306e5a1d8ec4 CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2906d703-d5d7-4f6a-971b-606a5f9697ea CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc41ed9e-27d0-4a99-b79c-fe4ab50cfb9a CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078a4179-ca46-4782-9104-3aa12427f52e CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c225117b-3f6d-4e3d-88c5-67bd64ac2a15 CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f1db05-1d16-49c6-81bd-233c1ff6f2a1 CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fafbb64f-d7c7-4e5f-bb61-c961d0c4db8c CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f755382c-4e2c-4f6f-80ce-32d8d8b391fc CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 616d947f-d267-4329-a163-2ea61c88d904 CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6b1e2a-7dc9-4148-a9c4-8f706fa253f8 CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c470f04-9cf9-4e99-a1d1-27b30c415451 CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479e01a6-b014-4181-97d1-239a65c56a70 CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22031a69-1c37-4cd3-9aa4-a3b33201fa29 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d00d177-a42d-46d3-800c-3cd5286afbe3 CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 857176c0-92f3-47eb-977f-23eaab5e545a CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7304369-5fc5-48f1-9cd1-545e789c45ac CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22d9557f-80ce-4db0-b736-963b4b961bb7 CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e03875-654b-4cba-97e7-a3a8442dec0c CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cadec94-6ac8-4dda-8d74-42f1a7454861 CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4caef358-6235-4934-a7b7-47ac0009d9bf CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b245f548-fe5a-42e0-9289-bbe552828b9c CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b2b449f-406c-498b-8ee9-d26867560731 CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ed97f59-afb0-48f1-9866-8b2810f43ac3 CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72218e89-00b4-4aaf-896c-ffaf95ad276c CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51a7725d-e1d8-47d7-9f4e-15a836ae179d CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048ee730-8c7d-44e7-89b1-8e1944467307 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eff7ab31-2c53-4026-953d-418c6bae7ea4 CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6850e279-283c-4a91-8344-a6d1ec8f4563 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09e86ab8-534c-42b2-b458-0a1478173dd3 CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f92ffe7-e0b5-4920-b9f4-1c4798862b5f CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7a8552b-db39-4fbf-9c85-ba93c70d930a CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57139fb-9215-4d23-9dbb-9921ae677cce CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4179e6a5-7ad4-4b23-9ddb-5a96459b6125 CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f265e3fe-b754-4325-9502-c072f0fd5a1c CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48be3e1b-d2e4-4491-9da0-3125fee5f792 CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f07b13d-5d5e-4174-9b97-d75fd5281af2 CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1715b0a9-69cc-4da7-b62e-48760c3d931d CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9137c1f-86aa-48e2-bccd-abdacd937c94 CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72b7b772-5bf5-41b1-9ff5-2d4730d431bf CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2c6aee-b46b-4c69-bc60-f780da64dc0f CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eda8844-c12a-4d80-8860-10f56c7ac2c4 CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a338de9f-5504-419d-9efc-d662069054e4 CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26b79a5d-ab40-4501-adf9-ef647b0ed0cc CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d0c83d5-f92c-49be-8295-f1160697d425 CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d662b045-597f-403c-b955-5d456b227545 CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8107023d-f35c-4ffd-84c2-36ec00df7a1a CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c30c16d-c11f-439f-a15c-3bfc84c67b1a CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec3dcc8-dd04-479f-90fb-f2898a732361 CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8561ad2d-4b7f-4831-aeec-4501f8363393 CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44204946-2df3-4af9-ad3b-40bd5783e0c5 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abcd7290-0f10-46e6-b25e-f21209145f2b CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15c5e5a-646c-4958-b4b3-4cb3f24c0d1f CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9da28b3-f585-4645-808d-9d1732d51265 CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04cb813-ae9c-4eed-a572-030bf903431b CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f93351a1-159e-4704-9b57-a545573ccd0a CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c06990-f194-489f-ac0a-8cdc5116ee4d CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5caf9164-c27b-4850-b68a-fa8957e0a60c CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218a05c1-1fb2-4d02-8896-de93af32896d CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa4d3dba-8790-411f-85f8-12b59f57504e CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1d767c-7cee-47eb-8b29-c853a11ce55a CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1331625-6f40-4f98-b437-61a2c585bc02 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740b1b40-7cfe-4641-a91b-cba27dbf385f CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b74cd929-8335-4823-930c-fc058d63dc4a CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f424a6-894a-47b0-9aca-76a935be0b91 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 390191bf-2b0d-4248-a239-1e3aa0eac517 CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646c902a-f8dd-4365-9b90-705f7bb1be0d CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de4ce902-082a-4bb6-8a5b-f9b691755bb9 CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb2da2f-3447-4ee5-b9ca-a39c8ec0ef84 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37f0ff9c-ab27-4c46-b9c0-44798d0ee58d CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d851efde-fbf7-4652-a62a-819cc15a1aec CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f8c3046-35b6-4fa7-8268-cb39e8d316df CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7bfc00-8276-4aab-8a8c-8b70d6cb6c6a CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adafbdec-d630-482d-9de2-dd6c79cccc4c CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c6cddc-3142-41b2-95a1-85a8514e294b CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a897e24-7847-43b4-87cc-6cd2285167db CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948f210b-f15b-44ef-852f-250696244b6a CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b082a1dd-0b32-4da0-95f9-58f76c95d35a CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288fcbb8-2be5-4996-b3e6-15c552180144 CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e056637-0f83-4a00-ab61-e6e4d5980184 CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03f04bc-bda9-4ca8-963e-eb75d5e222c6 CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8992ef00-82d2-4c96-a3a2-cd83d117b81a CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e92576-8c43-496e-8b64-8439675db951 CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79a302b5-0c7d-45e7-b045-be6d9dc1ee7c CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288e9299-2b47-4714-bba5-b49751a1dbf7 CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 327af837-898f-49fd-8e96-86fbd0d32435 CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff10501-ecce-4a35-8a23-af94dd1f5b0b CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e40d722-6bd1-47bc-989c-51e50e07f7ab CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae200b0-f172-49f6-8fc0-af24fb251d52 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69e1e045-dae1-410b-a3c9-4abbc83080b9 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab96bf03-d8ee-4c1e-8f05-8d434c31ee8c CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e06baef-346c-4335-b2a6-1a62b1318e75 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7c6e4f-d877-41f6-b6a1-2ab3f84abc92 CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b6dca97-b0e6-42ba-b464-61e7b841eb73 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44abfead-819f-4154-b19d-7f39bd8fadf4 CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3c26db6-fd08-4839-8cf1-a26428d29991 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf7f059-e66b-4c45-94a0-c30736f71489 CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48def3e5-5c9a-40d1-bf36-272916a04c18 CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27431687-8105-4833-9cd4-750ca039ae7b CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1072c959-a9b6-47f1-8f1d-6b208ac249c5 CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40e3b26-a11a-44b4-9032-8edc27a5d1d0 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb18bc6a-6380-497f-b886-baf1ceedeb08 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56aa23d-1469-4935-83d2-a9c53a4c30ba CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4805d9d5-0c53-4a34-bb82-b7b1cb0301f0 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015c46b1-f1a0-4aef-aa3f-4cd93809f0ad CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edff388c-603d-4928-b15b-16070d0c4c07 CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff90b439-11f0-42f9-9d7a-3ac70c23caf5 CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f88f915-dac7-4355-945f-79b281cd066c CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5acc65a-05b8-46a9-be6a-bdf793d96bda CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 990e8a1a-5821-4edd-9661-c67853fc2c52 CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c48e36d-f78e-49b2-b8cf-4ed8077b1b7d CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3d6fdff-a8f7-4184-a309-ee5bc768b88c CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8bb0638-7902-4746-b3ba-3ac966eada09 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76ed6cb3-08ad-4d11-9fc4-17b673c1da13 CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b781f116-f4f5-4b8a-90ee-9bf5e736a1f6 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5484123-ce2e-4396-9e53-c2dfafca7d8b CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71a1561-15f0-4be2-90ff-104f37570f9c CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 578c5601-3114-48a4-b60f-9debdf653927 CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9adc7c-51cb-4edc-b6f1-fbc5c496ce4f CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df40f5d0-b57c-44d0-9e12-808df352c56c CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1744d37-5fbe-45a6-9431-0ac34baa31d4 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9863c936-6532-48ab-b5b5-780086178a08 CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18b3eb6-b957-4f19-82e3-82888fb7c213 CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a87eb2c5-11e2-4c21-8e38-3ed772f17c18 CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283a9d0b-6382-4c86-812b-beb40b944bd7 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a5e2281-dbeb-496e-ad33-5f552f0ab97a CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4657c1-22d3-4e6a-8002-0fb3c5dfcdde CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f585d73-ae8c-46ca-b53b-45d797c565b9 CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a158f09-b302-4a4f-8c55-8db3b0c92106 CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45ee40b5-e199-42a4-ba2a-5cfd602c92f8 CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5c5ec6-fab1-4d2e-9a9d-10246ddd355e CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6597f63-32ea-4d1f-b43b-0222ba7f5517 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073fbccd-1e3d-4232-bd12-0371576c3dc5 CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05779c43-1c42-41b1-b53a-5424c9ad25e3 CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6aca43-88c4-49a4-b61b-2e1855c0f6de CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab2e4a2c-ce12-4f8a-961e-44b915b72f5d CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba63845c-1788-43e2-8b23-665408b4ea43 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7ccc87a-e017-45ee-ad3c-194f588b9fee CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44edaced-186a-4b7c-9cad-bcc7b127e5a1 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 699b34a7-4487-45e6-b44e-b1f7f39e9663 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24465e5f-03f4-46bd-b862-c3db40e059f8 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c46495d-612f-49f7-87f4-1f2be3907c24 CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4618f7e6-b65a-4d53-8d60-078a4e249b1c CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51d34c9e-95de-4df1-ba42-8fd851c55fa2 CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0c53a9-d694-4858-ba96-33ff0dd76ff0 CAID:CA2582343066 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8e0e312-e311-4726-93ef-a92a765ec289 CAID:CA2582343066 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe219c54-20d3-40e4-ab38-aca94a60a8cd CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d995c97d-e4f4-46bd-a9c6-817916fe21e8 CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6468ca-886c-4473-9fff-6af9aa13d448 CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67afda9f-a375-403b-8058-7eb332a3fd4b CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765b2259-fcc1-4439-a65f-7572303a5f35 CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d9f94fa-8385-4547-b91d-7d92124503ce CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae4681c-8881-49c6-9d61-811728c9cbf8 CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f7ed511-7108-4b43-8518-66ad8146d2d7 CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f1a3ac-ea90-4c20-a494-c0a585123e09 CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15599a7c-70ee-42a8-a9b1-dbbbff37419f CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7510c83-5500-4b0b-8806-9eb16f91eb4f CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62fd905f-5b76-4b86-b8b2-d50e17bc25ed CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757e548c-d731-4013-bf38-bd742ba9fcf5 CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46f73b74-0f9e-4b3d-8022-d1e7140d9003 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4fb6f0-8a88-4ead-8a8a-cffd0cadaef2 CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d3e6cb7-f7cf-465b-b16a-5fd71bbc1e64 CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b92d3e0-9356-408f-b769-5776d01dfa9d CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c85bb3b-3f9b-484f-9902-36470d314f2b CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89f1b25-6346-459e-9c1a-b9bfb260734e CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb0dc540-0b0e-4153-9c48-9b7e4abeddbb CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36bb4ce-e63d-4396-a297-627219406c59 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8a2d853-01fd-472e-ba31-666ea68fcd20 CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e355cebf-9e04-4b35-a23e-a92cadac28f7 CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13618f72-00fd-44bd-a245-90910d024451 CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6023e87-110f-4ea9-bf9a-ef455cfcf997 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fb411a7-a137-4e8e-abdf-5c4322081ea3 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d17346-40cf-4fca-ac20-ea453ff82b60 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45370ecb-b154-4f87-8d20-86015a6b787a CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f98a6f-9b21-4b48-b6b0-085684600d1f CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88af9add-02d4-4b88-9429-4e3006d54496 CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b0dd75-9d12-4ae8-bc1d-5622e5805a01 CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e229d4ce-1802-4b3a-b89b-73416bdd430f CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222570aa-f0b5-4c15-9305-36677d6ea54a CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d8046e4-e037-4fb8-8a93-d806f285c652 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b3dff0-867c-406a-a273-4de4344372d5 CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dfccc20-f1e7-48db-a48d-d29a42134b8a CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a2c63e-5b80-4e71-a38f-ac8537029417 CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff2a3c20-7be2-4146-80bd-a691db59d37b CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5f661b-cbd6-4490-b8bf-ef319a73ac53 CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91c1b08e-f10f-40d9-9882-b8d0cc5555f3 CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a485f3-c1ba-4feb-845a-846e61aaa2dc CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e48829f-2729-4a28-9d10-9f2bab3b8607 CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db06f14-d681-425f-8270-d1f75c792e1f CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55b9e4e4-f8bd-425e-9b8c-38f9a9b1ea7f CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6f419b-0dc5-41e3-bf64-b190af453d35 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55558d23-cf41-4983-a683-eb78493a8e5f CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e1dda6-69bd-44b8-8ef2-4f8f4a4a1cdf CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b6689ef-46f1-4267-a25d-996adc257c3a CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45eba51-00c8-4991-be4c-885afdbfd88b CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5552781-2e7f-4e39-b894-10fff26a6f28 CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46685e7-45ed-4647-aab2-56d6e25be9d7 CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68ab25ed-8b2c-4c5a-990b-93855ff7f6ab CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c8d824-a0db-47bc-82b2-bb7a274946d2 CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eb63c1a-6abe-4bbc-95e6-610b0ff4a78b CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f4b9f0-d17f-422a-9b5b-3d3881ffbc62 CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf028d3c-9adf-4525-b4b0-cca913d87ed6 CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10184652-8f8c-489e-a4e0-b793145e1757 CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f087945-b0a9-4cfd-8239-d04fd990e2d0 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c666ce-dab4-4976-aeb7-dacc1635fd4a CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7127de6f-9549-4430-8063-052583d21ed5 CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a977273-a14a-4fe4-a185-d8bfc1786bbf CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aed31bca-28d2-45eb-8455-2a2e01460518 CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066ad9a7-a6db-44eb-af1b-6061dac26372 CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1c50d15-99f0-4dff-9f7d-96a8206d90ba CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc8ea7a-191a-4ddb-8a0f-211c70ebb814 CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48e0532e-1efd-4609-86de-9ca09b6a1554 CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2830533-fe40-43cd-a019-f78a21ce6a7b CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85161810-0b5d-416c-9a94-08b1e0d3205f CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044a9e29-4112-43bc-a787-639b42ca1c25 CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2230da91-42e8-4033-820f-075787acecb1 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8938fc6b-88ed-4938-915d-d19a1b602865 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b292f714-49ad-486e-9742-d15df44f7782 CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfbf5f2-461d-457b-806e-55926b2d54e2 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d95b496b-68cf-4654-87cb-19bccfdde96a CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe26a7c6-d3ad-4300-b7ae-6c914db41784 CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 155cc09b-8fa9-4fa3-bad0-f0d3cbbb353a CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471cb4a6-0481-4533-b915-643f0e71807a CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c5d57c2-e0ad-4fc3-ae1d-b85fdb6dc485 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e97a74b-c0f5-4a00-a0cb-0b3c48530cc4 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af7abc3a-e165-4408-a164-83e72093ec15 CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27742b28-96ae-444e-993d-60b5266c12ff CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c45c585c-3cde-430b-9fe4-18ffc510957c CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92af3b87-a2a7-41cf-a60a-13777796b332 CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b8e5df6-c0ce-45be-9fbd-07c0575b730a CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ab3ce4-e8af-437b-abd8-4e7fa3fe2ec5 CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5709180-e2b5-4495-be8b-9bc828bd3eae CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df45d34-7195-4902-afef-f319f34df83a CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1251afda-d0a8-4db6-9d66-257ba92612ec CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d2e4c6-3a85-4f2a-b1f1-a5e867832981 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33f2ecf6-841a-4a69-b5f5-dbfdb8363fc2 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d69eeb-0e3b-4415-ada0-e8564ea20675 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 207f3219-371e-4a33-890c-3170bea4620e CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5eb8434-4da3-4074-a994-6678ace17a48 CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b644a88c-b874-459a-a71f-5ee0b9e4afc3 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69b0094-c213-4a21-aadc-173fc2f1bc5d CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b004417-3428-403b-9958-93a3e133310b CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71507a8b-a565-478e-b898-a9d4464539b5 CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdbb8fb1-3005-42e6-89a2-c550e94febfc CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f625db-782f-4112-88be-ce770c432415 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fd432f9-8eb7-4490-a9f2-b68fa4895a21 CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864a43dd-e467-4375-97f1-d5e2a3fefdbd CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e33e2f26-d6ed-4ac2-9710-3853bd27613b CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac74aae4-9e1d-4e7d-9b64-709a8a27ce02 CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f6c895a-95e7-489d-8c85-93aab5577391 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b9c0c8-f2fa-4cb6-8bbe-3125a1f9d71c CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52569a41-d4f0-46cd-956a-9f4f32f8becf CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0da78c3-308d-46e7-8330-610d5e1b3e24 CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22f54bfd-aaca-4d68-b7ea-1268cbab40d0 CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e6377c-67b4-454c-ad2a-97659d4ce06d CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b58bce4-a290-4893-83b7-e8efb191a3de CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eaf3348-593f-4798-9e7d-e49d5be815c9 CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e0de277-12c3-44f1-9d7d-bef1dd4159e2 CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed56340f-fec7-415c-a11b-9bc03c0e9bd6 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3d86ec1-4d69-4aac-bfc8-29d39b88c5b8 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c32d37-a1a7-4056-9388-d5f4cf47b9de CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23162072-5c43-4454-b80e-4ad51c8c8d24 CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef430d84-f952-43ce-bdcc-64e46db01e29 CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b38193e-9f98-4c83-a921-837167c1ba38 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb0d61f-625c-49b8-9e59-c7468f11afbe CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a3f6dc3-98f5-4dda-b7af-6f10434d9f53 CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ffd1fdd-f57c-4a9f-bfc2-27b1e1f53453 CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b94b4afe-a35e-457b-849b-bd8a2d81c44e CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e74bf6f-7538-4e5c-8d4a-4a690eabaa19 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09016629-8db2-4a87-850d-e34e6a2ef36d CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5d3d7b-ee31-4d43-99f1-4d5a0cbd6ef2 CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 585393c9-303c-45f9-b4dc-fca3eba614ed CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2355b5e1-9ffd-4585-9143-0dc10e422fa7 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b800a1-87d9-41ff-9a4e-aee68bed96ab CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276bf812-805b-4171-9a3a-79a6be387609 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 659f6fdb-1376-4e88-bc27-c237144d5561 CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e5c889-8f5e-4a0b-8e8d-43d88eee9e55 CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f881cac7-f4a8-4109-83d9-3a517bb61d80 CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc524b8-551b-4380-a530-8af9674582a8 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd6a5db6-0a11-444f-abbd-9b86b21ef37d CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246c8d12-b5b8-491d-8c0f-780ed89e43a1 CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a44b5fa-95b1-46dc-b169-f938b75ddd9d CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920bb388-c04c-42e0-88f9-0bd20931da84 CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffbb2199-b6ad-4d88-b55f-1dc840c5b0e1 CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef26d34f-54fe-4859-86dc-81096fed8dde CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31ad93e3-acfb-4f1b-9dc9-247a102d114b CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1d50cf-2f9c-4f57-84ce-6a9648be1adc CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 603c99ca-caf7-4c7e-b587-68d532b5ea27 CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6198e3-32d7-4546-8425-98a079807572 CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5889b4c8-590f-4226-826b-804faff219b0 CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec06c42-5d55-40fb-a2e6-d9890ab99d18 CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee339457-27ed-4e1f-a2da-33d47d1895f7 CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60538c3-dc7d-4b3a-9fcf-da7ccc14ff5c CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a74701e8-efbb-422d-aa3a-ea63aa703366 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f52fee-67d3-422f-90bc-ef7906f7d595 CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4bbff8d-87b7-4ae9-83e0-3313fe4ff7a9 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92885e23-f32e-4e60-8f0e-f3dd33c733c6 CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb1b32be-9f55-4179-b493-f2c2a42a7971 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273f80dd-0236-481e-9607-a6a561a18cff CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57fc437b-a025-4646-aa6d-f414424b71a3 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f52475-6970-4944-b396-214b925a2e41 CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88a96543-0bf1-43fe-afed-448513073f70 CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d94b9dba-7ea0-4a0f-a31c-8e3102af80ee CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27413b79-9c2c-4eb6-8d00-8f7d275791cc CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09005666-fddc-4ddc-a3eb-4d8d481df6e2 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bdd2ae6-ff09-4908-9539-64a9a4d772cb CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78078427-0651-470a-8191-1e7a8f4fc78d CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ae833da-42d2-4369-b33d-ebb208c60b4e CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33e6d36-a45c-4d8b-85e0-adbba9c4afbe CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 661e00a4-da8b-4662-9b0b-ed58ffd5b4ce CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da45fa7-c8d9-4321-8a5a-9284a46f21be CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5389379-898f-4840-bb4d-91ebcaacd756 CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4aa5cb-8bb2-49ee-8ccb-bc2137aaf7d8 CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a43f2b21-6475-4e47-a57f-1e06465da67b CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526a414e-e688-4719-9a92-c18498d70cd7 CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f233ed05-8711-4be8-8ff4-69b15b2e3098 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd358540-0623-49a2-9149-bf33c977c03a CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f10f899-cb6f-4442-99d1-fe9505cf1407 CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43455c48-42b5-40e2-af8b-3c4fdf2b3e28 CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f91530c9-57d1-43cb-974b-e611ea0136ff CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68208be-5c72-462f-bd48-7e486cb22e88 CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eda4937b-ffa2-4a83-8d68-c55d70da7e7b CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564c0a5e-3e2d-4e17-9788-1787ef555a49 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49f6a42e-c7b8-4a08-b354-4ef3d2b80ac2 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65be38b9-7dae-4f50-9934-582f5b142913 CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f438b850-65bb-4b28-94cd-cfe45466166a CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c07047a-4458-48c4-9028-ca6d1b422adb CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8db488a1-1dcd-4d12-afb1-7915362db725 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4b23a8-312f-4d51-9124-e0b1f9f9db9b CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c69f4e5c-9d68-47c4-b909-77437882a04e CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa9499a-e223-4802-bb92-e1b88517a8c4 CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16201073-5fce-44ec-b3bd-47c846ea3185 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee1887d-fded-4019-9e80-33d7a99e78f2 CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f725656e-9630-4b1f-924c-aca44650f65e CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193ca821-5bd7-465a-bb9f-57504581af3a CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 634e6987-c64b-4cfa-bf7e-1a964d4c1f03 CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a5356e-622a-4394-ac8f-fb764254f23e CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b81a619b-a4e3-438d-938c-f593eb3de188 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf5ab67-e11a-47f2-b3a9-55ebacf37c9b CLINVAR:1580855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94568f01-d854-429c-bfed-180d1bfd2c39 CLINVAR:1580855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aed0b33-f0e0-4e42-b453-2b7ecab9594e CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e220323d-0727-4ee0-87dd-8ebbd768b5b7 CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d450b3-9757-478f-b0ac-b57f6a864c68 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea50f5bd-1661-4e97-88ef-62c784de1ade CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe81fa19-0a42-4fa6-876a-e5b4d69ab8a0 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98057d1d-645d-4c9a-a6d6-37af902efc61 CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 509cbb97-a138-48fa-bece-47ce862f0cb1 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d632068-9fff-4787-bb31-b57c8626b993 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db24c6a-107a-4a37-b88a-9318144a50e4 CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3aa9be8-9b6c-4872-993e-69936b5cca46 CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687e0f16-c9bf-4e78-bc94-7cfda4a1b445 CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2faa7d0e-fb3d-4607-9f48-ee082a4cfea2 CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0ad6cd-8f8d-4411-b19b-71ef9aca1567 CLINVAR:1971169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e784d009-343b-4bca-8926-8e1987ddfe99 CLINVAR:1971169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b21b09c-aaa6-4470-a381-c8792df937b3 CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 506dc9f8-0485-4e27-8914-f14158846799 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10fe9d96-a890-49ff-b14d-49c787815e85 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad41a9b2-7adc-434c-ae70-6b7068725f26 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a7a71b-eb9b-4971-8b5a-437f19e7a203 CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1855cc05-99ba-46ae-a086-32f5bf8db816 CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738b4992-1933-46f8-a5a7-6bc9a8d3d43f CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f607539f-21c0-49b8-9bf0-7feae5dd4f9e CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483ca9f3-5dbb-48b2-972d-e7cc87715492 CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a924c44-a24e-424d-a3b7-c741f87e1b11 CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71b12bf-eb41-47f0-87af-3e45ca90ccba CLINVAR:2759147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c27b52f-be5d-4d3f-a29d-58bc4475f9ec CLINVAR:2759147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32eeaba0-44f8-450b-85fe-9291a28274cb CLINVAR:1590532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54239eef-0841-4614-804d-a4d531f26b5d CLINVAR:1590532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ddf5e7-8cf9-40e4-b850-5d8e70c55722 CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3c1fc72-725b-4cc0-a2af-8fc146201b74 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa7e4cf-9d0c-4efb-a168-631c9e4e0c01 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7c72457-9fc8-4f12-920b-8cd32be4145e CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafcab2d-35fb-4ec7-a7d5-cb97c3dffa80 CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d51d5ef1-2bfa-437d-b705-5385e5ff1c0f CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655a0785-5aa6-40b5-8f30-e78d8ace774a CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 952a244b-5ed0-4a94-b760-cd8e03b42186 CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1aafd0-fd76-4168-b2f1-b5ee117cd87a CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee873461-b696-4e56-abde-8da1770c1b4a CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e11c1b9c-8fb9-4757-bde3-b2b0275a29eb CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 042b86bb-ea28-43be-8f6d-ecfcf7833c5f CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen accb819b-d080-49f6-808a-8683567175d3 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6a80f4a-1c30-4e8d-a37c-853c4b9bf48d CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d39e07-0f2d-47e7-a0e2-62ccbdcee681 CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75281098-580a-4e0d-83a7-86ab3a3abc35 CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cb0c71-2d8c-4eb8-958c-8f0a3a709aad CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c1bd58c-84a4-426b-8b66-be4f1237037a CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5594cdef-cadf-4b84-b550-e809f533ef21 CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f36dcfb4-5b9a-45a8-aa67-2267bc830525 CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3058d2a2-1cdd-49e0-ab7f-dcb095be8d56 CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02fefff8-e05d-47de-94a9-baa4828dc3e8 CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec461af-bfe7-4957-9bc9-e13ad55f486e CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e38d8f0-addf-47cd-91d7-1a7b9d486e6a CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7933449b-d78a-48dc-96f7-eb738f2529ed CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a372a5f-1957-424d-8cb3-e41349297728 CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e4b0d7-63fc-445f-8b40-c1229e5e90f5 CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 508db872-a88d-4421-9536-82bdc6347680 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360861e4-7842-473a-9ebe-9c8953837e47 CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9b3fff8-43e2-4cbf-bdbb-466a391d181e CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23752e3e-72ce-47e8-a0a0-47688aea90bc CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2a773f4-700b-489a-bcc2-839a7261eefd CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29340819-8712-4e1d-9222-ff48a45ac684 CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 765b39ec-cc07-4322-9271-59610a278017 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc0d833-2f7e-4592-b279-1f55c93d40c5 CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 260f2373-3076-4736-9152-7c26eb44feba CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b857e181-1628-440f-9b4a-90c24a2894f3 CLINVAR:2035147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ade6e137-05a9-4056-bb8b-7947ace625c5 CLINVAR:2035147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1e0c84-ea0c-40b0-ae93-1f8b013f3df5 CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 631912eb-f29a-4b1d-9b7b-bc90be3a7808 CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12158ea-72ba-4548-9eb1-9712f0170538 CLINVAR:2428796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6d5cf6c-9cd7-4d66-b4a4-cc72055ee5a8 CLINVAR:2428796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e896cde-95fa-4371-a3cc-808dcee2f95d CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfa9380f-f389-476e-b200-bcf465509e1b CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48b25a1-96b3-45de-9136-0afdc0b8dfac CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eddf53f8-6d3d-4f54-8010-19691709a484 CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88ccb016-2a8d-449c-b3ab-0b89450b5a56 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0be48bfe-8d6e-4e15-be08-281a5dc12af3 CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5144736-aa4c-4961-a28a-5e425d00e2f8 CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4518b612-bf59-41c6-8967-258177ed25bb CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889a3c2e-4e84-4a18-8d46-58495a032be6 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf39e71e-8a7e-4d06-9085-610489ef0f8c CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e02f5b2-f667-412b-8ebf-b538f2cf42a2 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc1230b3-ff0e-4af6-8011-cc8f7a17a061 CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0be9850-eea9-43dd-a441-89f31d0f8ab0 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09234ec1-7511-428c-849c-099756a5053a CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322cd095-6ae0-42ad-b133-031a03a75b20 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff50ac9a-f5f8-4c88-83ea-b63122c53537 CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64123af2-d630-42d4-acad-e2b0bda4dadf CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0187f81c-ed31-4762-8a39-7bdfa774f03d CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae299c9b-46a3-4ba6-9efc-800fb0aae03e CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 993dee09-aabe-4f28-8978-edc2f748ee2d CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5ed7d9f-8750-41a8-b75a-9e6e9faa4b43 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49f8de36-a47b-4682-8b88-0535c481348e CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f886ec-8fa3-4d18-87c0-4cbbac269c6d CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 874d9791-b28a-4b23-b71b-b7b26f9c76b4 CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc623c7-8027-454d-ad9a-ac04c81bfb28 CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38c5f86f-cd41-4bb8-bbf6-521fa617563a CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b1881a-15ee-4afa-8261-175042935d39 CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcf0923c-047a-4f10-a476-44c91ce9f380 CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f8b5cde-7cfd-45f8-a7ee-efed35811a60 CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c72bf028-4613-4866-b49f-2372a681d70e CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb5e124-d4b9-4fb6-b839-9e147d1c71c2 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71af1b95-2e41-4200-ac75-dc9c659bfd20 CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77a3f7f-2ef4-41c0-ba00-e0364c8fbeb4 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c71ba10-cfe8-406d-93da-0a3019442530 CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c2af31-96f5-46a5-abf0-de83c2299997 CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36ed1223-bdb9-4d17-80bb-885692b9eb6e CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b8d041-4ed6-4d0d-9d4c-d06c73e1e82f CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af125d51-3c5b-4f79-ba12-4a4e9859970a CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122ffaae-5f8a-4e65-a8ac-a49fbebefc54 CLINVAR:2633656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9850519f-ee97-45c3-99b4-ce1067944ba9 CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0196163-ccfb-4761-b63c-187d72003946 CLINVAR:2443682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b65e0714-3d1d-4e45-9b55-2ee9f09b3ae3 CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327cdf19-9110-4233-868b-154f31416cd0 CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cd5e421-171e-461f-9e28-1df0f660ab1b CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3f2898-27b6-4495-901e-759b0c8ea088 CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc7b6859-5821-4bd4-a24a-2e8a7d11060d CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c324f92b-0d11-42ee-a090-76469ee8efc9 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb2f79a3-4dee-4828-bb0a-97aff835fc3d CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d10ed51-c436-443e-a881-aaff5a250cd8 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02896fdc-b702-4cdc-8b51-3d21612d3493 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14579a97-4c34-4c32-9a7d-60df04923c4e CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c96fd939-a94c-4c34-951b-30792cc9017d CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a13836-3e68-4091-91bc-a2d119ca4a09 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fb1afa0-4893-4bba-965b-9e6fc6550b62 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f621a88-220a-40a2-a0d3-b7ac555d90c1 CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e0b4187-c1df-4d9f-98f1-a826c613b065 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4312ab71-0aad-49ff-a304-542bac6e340b CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4aa6df5f-cdfb-41f6-8f83-159a0cbd3fe5 CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461a07ad-704c-4064-b223-45b86b147f37 CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a352d6d0-77c4-4387-9845-b32210422221 CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1179d43-c13c-48d8-84b2-ea943c8b2380 CLINVAR:1466051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53fcff33-bfb5-47d3-9ada-386669bb20e6 CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7742858-f059-4f75-952a-91376db44de3 CLINVAR:856798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d34dedfe-2351-4e1d-920f-537949400814 CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eda4b61-54ff-4587-96f1-068c63f44e62 CLINVAR:1684391 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08dd6da9-2e09-474f-a5b6-800cb14b24ed CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1e3761-e2e9-46b3-98df-45f5815d0749 CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aeceb6ab-3761-4c7e-9fd0-49d5e72342e4 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e75525d-c77b-4dca-aace-c16709253dca CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ad5e3c8-f0e0-4fed-95b5-c438f6acbba2 CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5367225-d77a-4928-ac13-2d37d041cdee CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4961946-cf03-48b7-afed-6bde5a6f17bd CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ffa9615-4d13-4c8e-a3ab-9a48852ed503 CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90423856-d03c-44ea-98b8-ab1ec215c242 CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599c8ea7-8f1f-42e1-a18d-af895c5b7eed CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e64f7ec4-ccc7-40fb-9280-3fd42e334686 CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad24c125-6d42-4f50-8525-bcf7cc2b735b CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75744415-a63e-4f40-9cfb-4b88ef8f2667 CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1b6ee3-179d-4566-b806-c170e29d6554 CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19305b82-ea92-4429-bd20-a6880421c54a CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e9903-4da1-4f35-b4b8-1268a5655882 CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4ebd3aa-6994-4eea-81e6-4e7b40976821 CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd70b262-3fcc-472c-8428-c4710bca288a CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d09a51e7-fa50-4888-829b-0b183a500ae1 CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5e906c-768c-4006-8d1f-96439778430a CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fff749f-9ebc-46cd-af08-7e5d0d19f3f4 CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47300dd4-06e5-4777-aae1-20348135d5c6 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e8083b6-1c94-4897-8c3b-211c9caaffc0 CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f266ecda-0d7d-4b7a-a8eb-b5deca24c2ca CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f23d710-bc96-467c-92ca-34efa1660fbf CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6c1838-dec6-42b6-a9f6-1b238ba93460 CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa00d9e2-d1dc-4003-83ac-f4a6e2dab953 CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ec2b57-255f-4163-b111-f8f0f6ca6d62 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f5eba2f-15c6-4c09-9c50-edd503a080e8 CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc906a3-7277-4216-8164-f35de9a880fc CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1535061-fd25-4a62-88a7-cda1b3c5226c CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecc5d44-b73e-4a27-8131-76a9bfe9cf40 CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1ea8d6d-b003-41ec-9381-6a26e69a82c2 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c402d0-9072-4a95-b18d-31294038f9fa CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79b59ccc-87b5-4bf4-ad41-d3d554805b57 CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c9aa36-e20a-4f68-be03-9b1b19568504 CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75efc2f7-f6fc-4689-b523-90942870aa00 CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994f2048-291c-4d7e-9354-bfc50d07f6a5 CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c5288f3-455b-41cd-9ed3-58dc4cbea7fc CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae019edc-1079-452b-a8f3-4f1fdb3b82cf CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cbd557b-a1ac-48c0-ba2c-5d4c7aa84d23 CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abb074c8-a52f-4ad0-ada3-04d7d19c16d8 CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5eca7463-5b26-42d1-b119-13a6c8546164 CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe33ebb-6d07-4ce9-a40c-1d0077de41f9 CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ca4b036-22bc-47ca-b15e-68b443923060 CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f063fccf-159f-4ad3-9268-b5dc3976691c CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cdb6ab8-a621-47ea-969f-7ba5ce21ae84 CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be45fc08-7493-47c2-8fb0-e69dbb77d3ad CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 341fc879-1fdc-486c-a87b-96437a170d77 CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0616541b-0e19-4262-8ce5-4e3d1e08dbdb CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8db93a2-981a-4429-a622-09773d856d16 CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5529e3-eb33-4fd2-a163-49971bf99dc3 CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86db940f-54c8-4da9-8fb0-8d101be1c473 CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3ce412-dfa3-4cba-8733-50dc3b36f96e CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 719309e0-72a9-43dc-a787-dd75c989483d CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac3fd0a-9349-4ae3-bb63-56a50d2e4f02 CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 952d635f-fb34-4c7a-aa7d-340667fce64a CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863c2110-4f62-4bae-9825-0cf55c48611d CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca16a59c-3277-43e6-9075-565c30f15102 CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06f7911-4526-4a54-8482-00301aa9b904 CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33c8def7-a423-4462-9588-812d95782211 CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1175529-b81e-4e5c-a559-6a19e855b3ce CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e9937cb-0898-48ec-b667-476c029b8a0c CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33bbd84-e8a9-4d96-bb4b-4c5e29637ae7 CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 564da3a1-bb55-401b-9c31-b00934cc7b95 CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840fcf52-34c9-428f-b4d4-370accdf6653 CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ec728a5-c2a3-4f7e-957e-da430e7dacc3 CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6808ac-b0be-43cd-829d-effff9089f69 CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0771cdc-e2d2-4927-909e-5ec0d8f6c798 CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4da06eb-4247-4b45-a084-c8d2d7e4e31d CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b9ff4c2-1eba-4a6a-a3d4-edc4639af340 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78835c3c-0c22-4143-b71e-35e8027adda2 CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23373ebe-6780-4f12-ab24-187a1765651f CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f02e2a-9562-4a6a-8566-fb5fb7794fbe CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 002fb7f8-56ba-4e30-b6f6-fd74bc670fa4 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a374b96b-e9a6-44f0-88ab-615387448df0 CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49a419fa-16bb-4e45-a407-93abab8f2c02 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a72791-f62f-4643-93be-09ad1faa0ef9 CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e0d0253-1269-4d43-8dbe-5b527a3faa94 CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d1b862-9b2e-46a4-a490-d7bfa6da6291 CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3a644fa-d175-47c7-9fc9-22f3f3e00249 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9498c0b-ac27-4900-a447-498e35fd02a1 CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46fb5163-16e3-4eed-bd27-417086c411cb CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9940b27-388b-4a68-a211-43ce922ef121 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52df09e0-d962-4521-884f-c6b394e66772 CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db919b12-1770-4d24-84c0-6d8c4431758f CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd9a57b6-e66c-45cc-805d-b7a44bc866fd CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdf8c11-bc61-4183-bdf3-465b5513518f CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7012521f-d34b-44c7-9888-60632646e736 CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c269f6a-4ce5-4038-bfc8-8fbcad2b0a69 CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f27c6325-ffe8-4e9c-be40-7ba0a9880995 CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b46f90d-85a6-4b7d-a1fd-5f0050bc56bb CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62b3e9bf-73f3-4143-96c2-c43c7809cc1a CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a01143-fa03-415f-90ef-d0b4af8806c3 CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce5e05b9-f430-4847-8028-d38cda8b5f1e CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8025109c-12aa-416f-83a9-5700fc6218c6 CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 882dc83c-1d06-48b9-ae6a-12e68db2fd74 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bad7de-119e-42ce-81aa-34e2a9e67e8c CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edac39c7-4973-4d69-962f-654021de63fe CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739af7c1-d21a-4810-bd2a-4a9bf1666f3a CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4908a856-21a7-4fec-bac0-73717f9c1f5a CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c844a63d-4ad8-4133-863c-9e09e4405f50 CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1249d3cd-965b-4262-9e46-8678d8faa56a CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bddc1d1-6784-4efb-bc5f-bf1e3e49f8ce CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88e93f64-5417-44cd-9dae-0f249cf8c14c CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2130d965-49cf-4a07-a734-cfe6546e405a CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 574a8f0e-3761-4eaa-80c4-033d1ae9fe60 CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081061a0-a25d-41d3-aefe-0baad08101bc CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9a3e5ef-c301-4fc5-96fb-4ad08757d755 CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d687dcf4-c29f-463f-b34c-c73515c89073 CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd75f00b-f5b5-4f8c-8b35-513057e14254 CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666e7c39-0147-4bf8-a1ac-d9089842d19d CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b59b1be7-9c8f-412e-ab38-fbd8a7a186ab CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6279f051-3862-4cbb-b84d-92a7b61551e8 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53ede50f-672e-4238-8da2-5a710dd718c5 CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f06579de-657f-4d57-ba3e-a678fc54d45a CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1da69738-28e9-4676-83b9-95de95bb3587 CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da5fd3b-7690-4d3c-8e73-666adf6a076b CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78b11da7-9ad2-4250-adc4-a8717a7cf425 CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b427fd-996c-42ff-9c11-f8976f3cfd15 CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 181bc105-6113-4090-9971-475c43bc2a03 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f8c9c6-c7f9-4a0b-a297-e63c1f469fc8 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5ab978d-3e94-4257-85f2-bc0fd31b4775 CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a45af5-cb26-46a7-b85e-0546a2088cfa CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffb732b0-419f-48c7-9357-c633cfa49065 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3b9c29-c8ce-4bde-9141-e967f4f16e06 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c478ccf9-ff00-4e12-8418-309f0ea1e0a4 CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe0970b-1e69-4eae-891e-575a111416c1 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84eb7755-dade-4c0a-8c2d-e5ca346c6ec2 CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cd0883-a611-4ed6-9650-fa2d4473a0ee CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50d94978-d07c-4916-a12b-6e79a4f00773 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b53c0c0-e33f-4ddf-acfd-ce7ab37213e3 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c6e1fa2-5de9-4a80-8913-0fb6fc591a80 CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b73ead1-b9b3-4977-8fda-3865f0716527 CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d123393-6436-4f46-8982-7faeab54cd3d CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4a6c59-809d-41a2-b1a3-48c219207e2a CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c597f0c-7f15-4240-98ea-fd7cda1423e7 CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237efe32-5270-44dd-8fd3-7d51809388ec CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac9a86e2-4a52-4c50-9aef-e43a24e3cf77 CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bdc349-3732-472e-993f-8ac59718e998 CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36f9a602-6f9e-400c-9ba3-01238ffe9f67 CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7944702c-5232-41d5-b847-17827909627f CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ca8ddbc-0b99-46dc-8eca-e17ac14852ec CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4890392-0270-461f-a107-5f3160d9f5d1 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad264770-cbb0-492b-98ef-ee281dc5526b CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac5271e-7709-4693-a94d-8faf3219c9e2 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42d63975-2174-40f9-8f57-fb670ac2c233 CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1e3a29-7280-488e-8522-4640175e8604 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ffe19e9-bec2-4ecf-b01f-242bd8e727c1 CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e51d376-3cd5-497e-9dc8-d27642616dd6 CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d1ad4fd-2257-42cf-b9a2-acc1379a65cd CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e040dc58-cbcc-4a66-b025-ebed977d0e5d CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21803e18-b516-43f4-8054-77705157c1d6 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2e4a11-10a6-43a7-ab81-42bf0faafe38 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79035e6a-d817-473e-8822-4cc41cd60ac2 CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c933956-32e0-4233-88d7-e085a4949152 CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a95a8a85-bc7f-40c5-8d8e-4af8f30a6158 CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d59fc6-f57c-445f-b90e-c73467b45df0 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e95eef5-8a49-42da-bef1-2b9c8215766f CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa98bba1-3251-4ff1-849e-f7d7d15e90ec CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2aac716f-d3fe-4961-871f-64f0fe420c2c CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67106ce0-8eb2-4759-b13d-77e1174b04dc CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1a3c11b-5417-4efe-aed4-57dbfd10f248 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9095f2-04e7-44ec-8f4e-d8e733f95c12 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e598dd3-ffb8-4b32-8a26-f653946ebc5c CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f12f63b-467d-4074-bb98-6d2911e11459 CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 130cb3c3-c190-46d5-b317-61c994b429f8 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336e3767-b7b2-4478-804c-177a1837941a CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8daa6ef0-0d6b-4ab7-a434-65fd129f5a29 CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb89071-ce77-4842-b70b-81518fe6dda7 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df3aa464-a52a-4780-ad02-ef4366d86f11 CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914a972a-a1d8-4836-9bc6-30b78fe51a94 CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c795d37b-cd26-40bf-8436-4911e83a3dc2 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e606fad-bbea-4486-8531-6636b5a1bda9 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8d44fef-14f4-421e-a9bc-2df19d3cc0c3 CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b646e7-49ad-488a-945e-fdd1d97f1b5d CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ab9b8b6-81ff-4651-84a1-4dd004ea09e6 CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f8b3b3-fd83-480f-85fa-ab884c01cdee CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e47666e-c84c-4680-a4fe-381699dca65b CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f339541c-0381-404d-b8ee-f98cc7036b13 CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4124b20b-4ba2-4371-be0f-00d4491a3b73 CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec6269d-40c9-4c3e-85b9-88a02082764a CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 196c41e0-b37b-4c40-9ebf-41cb0bc30505 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ca81ef-e249-45ce-a734-5ac48f2c51a4 CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a902d96-588d-4689-b2f8-6f9612e40444 CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed7964f-c469-4dbd-8708-3b34ced09ad6 CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d647f1e-eb78-46a5-8e03-981b0c84d7ef CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b97756c-8832-41a0-a49b-e0a83438e743 CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58dd9c45-af19-49e5-9735-31f223057d0c CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07360ee-d810-486f-86ba-03d5f0273615 CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f769187-5f3d-4aaf-b5cf-03ccbe04faa4 CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661d3c74-d71f-44b0-8451-b46e6c220ff1 CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4f6801e-a3f9-4aed-8d0c-7d03a2f529d5 CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ef8eb0-1416-4a09-9ea0-73e5f70d9795 CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ae6c59b-7602-4e43-a748-39c276fbe0b0 CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb3edf9-913d-4d30-ba84-7c1d3514d3b4 CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40d3eab8-af93-4e17-aec8-f2dd02cf731f CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce0caa1-9b2c-4644-9562-d33d7243ad90 CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8330624-00c7-4d93-945c-99765224fc5b CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890a09d1-8c2a-4de5-a68f-276d2a14a8fc CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d990411-66f6-4a12-b7ae-01727b85db62 CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d4f351-e0d3-4b3f-93c1-f76379ef019c CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d059e70d-e8cd-4171-a5d6-31bc6052fc52 CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef960651-f9b7-4e42-ac10-8ad66855ed87 CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 734caffb-a48c-4c2c-832a-f24b40892935 CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a88b87-627c-4ca5-811d-4d2d294d8a28 CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 781ec844-5a51-4644-b1d4-6ca0983ed1fe CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddee741b-6502-4bbe-87fc-bd106568b89b CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39278e9f-1919-4ce4-88e2-75f48aad3346 CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c849a5-9d91-4583-9c13-d4e33d97af37 CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9df5957d-b390-4938-88e2-f4872ebc7ebc CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903823e9-00c0-4678-808a-09ee0818ba70 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b632916-8f92-47ae-8b2c-7d3c6fd7520e CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18822bb3-32ec-42d8-95e4-4648adab8e61 CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6b2028b-7eea-4bfb-894d-6df69dd2711e CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ab9e4c-024f-4bae-bd22-acd54f0b92a1 CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 814e81b6-4146-4d60-b90a-3990da716360 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4649ce74-a095-4828-8719-4ca2f15fd191 CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ebee93-99d4-47e1-93f4-c9ce7bf98de8 CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff63081a-4db2-46f8-a464-bd3add97cebd CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1d86ada-2564-4bf3-aaae-fe8407a046ac CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146888e5-a3c9-42b9-8eff-fc793cf4d640 CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db9cbf0f-d09a-4842-8a37-dfd7d4ad5910 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c97917-f7fd-40a6-8485-5e027361ec57 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e4271d0-7b0a-4756-9181-1b42cc6be474 CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435afd80-2206-45fd-b22a-1aba9d00a23a CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6b1ee36-7d4e-48a8-8f14-64880a04e1c4 CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa345911-ca5e-40fe-a69e-3e7dca2d2420 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8a9c36f-9018-445b-8933-340de7eeb9e1 CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b586402-fc1d-4297-b4c8-4d51b0ebe114 CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30a3cd89-8d6a-4092-bf43-31e5255b674d CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03df66bc-9237-4153-aef3-a431dff0288a CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0062217-35eb-4975-bda5-1beea07b7c2d CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2768220-7bed-4964-9c87-0e5b8057b3e9 CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 527de94e-fb08-4916-9299-b3ac2f340545 CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df3ac42-03a2-41b3-a2cf-97f4328106a3 CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f88eaf73-31b5-4771-8e01-9c64459d610f CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526b2cbd-3319-4cc3-b540-72e78e32e8c1 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b994a4fd-36f4-4554-82c7-28263361c842 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5e6c4d-a974-4b1a-be01-5e63febadda1 CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc75cdfa-e77d-4809-91a7-37ef94a2f653 CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6638f50-bfe4-4e2f-aeb8-03c741fde38e CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 346d80e1-edd8-4a45-ba4e-6d505c1254b1 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc67a3b-a320-48e7-bfa9-1817c0c6ee62 CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c3ff625-fb8e-4411-8b58-3d2236866276 CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133dd762-23cf-4714-87c8-c9142a1c9f15 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7371c112-22c1-4d5f-936a-f792725cd23c CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3acde3-06d1-4836-8fc3-3c1a62908e96 CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4cb7501-0923-40a5-a794-3d5c62aee2a9 CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e173e0-17d4-432e-89ee-48e7b427a583 CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 423647ca-3959-4f6b-ad37-f1b3421add8e CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f367a84-42f3-44da-9716-99c3f6689437 CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8261da4-239f-4438-b8ff-c46a9765e04c CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebe758d-b716-426d-9a6c-41ca3f5c2a45 CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e885595-6db7-4e97-b4b7-ca09281c7979 CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5139d08b-c0e2-4d11-9ca6-2d41951a2ba2 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7e7cb73-aed4-4f41-8981-aee3ff408e87 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788d45fc-09d4-4a5d-a2f1-48ab3d3b1d91 CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f44d1f2-e03e-4502-b12e-dd448f0ab51d CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a7f214-0863-4f58-b109-858f6256912e CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70fadbb0-40ae-4492-8e78-d310c53e79e9 CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc194777-72a0-4e6c-ad16-e095f2e34202 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e93055b-66a9-4ce3-abd6-b95b5bd20af5 CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a419a50-b9db-4186-91a3-86908e7bac3c CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63d08f9d-2616-40f1-b408-8998b16cba57 CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251f1ee8-4584-443c-bb30-6147dcfc63e1 CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edb1e1e9-84a8-4129-a7d0-42f2751ec554 CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b374cb-2914-41bf-be17-7e294ab650d0 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae71088c-4461-457e-af5d-216afdf65c0e CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4514b1b1-6c8c-41a0-9c9f-6c2b20341395 CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9e7132f-4134-48e3-80b7-1051a9864c6b CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a223dd6-621d-4122-ab24-5abb05cdc926 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0062fe09-dd3e-4666-a8ed-51143d344a9b CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264c5da6-8a3d-4b40-82eb-7510dd2956e4 CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e752f388-917a-4987-a594-a78a8974c5d6 CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f38d3c-fdc8-4bca-95e1-75e2ee074f69 CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 893f4264-9282-4ff4-b185-c6888e1cf805 CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08f08ce-4085-4301-8580-7da5c73bc66c CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aca940a9-c149-4b82-8c88-b29299c4c46b CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806c0b68-ac51-4ee2-9efb-9210d3cc21f2 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04e7a27e-584f-4151-af71-60101f687a1b CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9718863-dd33-4b71-be74-4c09d3b349d8 CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be3d74e3-4854-4f7c-82a7-48fca03a5649 CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8452da-2ce4-4284-9cbb-96b62ca53c9c CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5abbec9a-cb21-4426-9f5f-ca1bb2f105da CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af26d013-f551-48fe-b505-761fbdf1fc48 CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d03abeb7-ddd9-40cd-a639-7c27af100a12 CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385a54bc-8fcf-47b0-b798-815fea37ea43 CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e70de058-3807-4519-95ae-add9c77719a4 CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73d3535-66db-42ef-83de-98bbecda4009 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6c73175-ba1e-4350-9d1d-4525be11c90a CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a30a48f-9742-4c84-b6a1-1eab2f5c5cba CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52780132-b0cf-4ea2-9d48-b5e722a7429c CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426504de-44d3-4317-9637-974105a786eb CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0811ff59-47aa-41b3-af51-6022382e9bb8 CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7390f460-7d34-40c0-a128-51d7d8897884 CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff0a7b69-0eec-4bdf-8d49-1519229e554d CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f363b379-ea52-4fb5-8ef5-9f808f22abdc CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43ec27ee-d88e-4c99-a604-e5beea4b3d2b CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b448f901-6971-471b-969d-97686a43c64e CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef88f212-b654-40f2-8a7d-8c25c7eb6033 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a70f9b-13b1-4e57-9a6e-573276a5066d CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d1c2e8c-c6e6-4db5-bd59-75c5c5352091 CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen affe4914-1a8f-4dec-8815-5ff0a30b95ce CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5258af30-d384-44d4-a1c7-5d9282ab3e8c CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68fd7ba-3fe9-48ef-af20-686afa033f30 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35441b1f-6c66-40e0-8888-574d20293839 CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef40fff9-3aa5-4ea3-84ba-fe76cecdf1c1 CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 096579f3-7a9b-4999-be27-a32be2cfcbfc CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b1879a-6f97-49ef-a78d-7be2265431ae CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c53c3c7c-4985-49f9-af07-8a2a5651a05d CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c729aa7a-f3a1-42fc-8115-e439a8ab2d4d CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36b3067f-101f-4f5f-9a53-b9bc01924dc3 CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50739a48-1226-4a85-8488-d0251ce61be7 CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 101979c0-8498-49d4-9fb3-a316e874c0e8 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac101c35-e980-4da1-a93d-3f429c481e96 CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69240263-8af4-4b6c-9701-f99eb1e108fc CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c0d60b3-acbf-48fc-ab6c-270abc2aa520 CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e24f84a9-88a5-40b8-a8bf-a9f172bcb6d3 CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fa8381-8771-41ff-be21-58fa72f992d0 CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 164288b5-46d1-4512-9b80-558f0d4cbb33 CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608b321f-036a-43e5-8700-0719e758f3df CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b81c076-e940-408b-9a5e-c6e535c8699c CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8140bb63-3c50-4447-9e91-9b00612607ae CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e060d90-5fe8-46e0-8706-8e75cf4134d3 CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ea39d5-11a1-419c-9be5-471be12b635f CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6b238e4-f68b-491f-9efa-9a60382738a0 CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e78aeac0-f59d-4f19-87f1-8ddabae9c291 CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7267cd2-f0fa-438e-b2ce-1ae33b8db5f8 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4701a46c-3ce3-45ee-a38c-eb1649fbe4dd CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb2f4cd1-3931-4185-aa09-cfb07113843b CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f0eb18-acb1-46ff-be89-c3f6823408cc CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a7cf984-8c3a-4720-990c-d43420b5b705 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac48dcc-bd9f-43c6-b807-8dc41df0fc43 CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa9d80ab-5118-4697-b1b8-3cf187de2a74 CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96fe835-cd4d-487d-b4d6-4d8f9230358b CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bca45a84-47bf-4cb0-a729-08e81a6a7f85 CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370f6ed6-f007-4943-86ad-44d0fc0b6390 CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3566fd7a-4d4f-4356-ae81-25a5e0944a86 CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596cc353-1804-4577-b8ae-e0e6fcb69951 CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d807deb0-adf5-4595-906e-2372eb2f50d4 CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca307a74-9524-450c-a8b2-b4d70f8cc26b CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed9da805-0428-43a1-8223-167c4ffdc717 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7c48ce-d407-4d1c-a657-f24dff55b236 CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94834c6e-37ea-4115-ac30-7ead49f08c75 CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b8dbc3-c32b-4448-9f30-5137d940fbee CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51970249-442b-4d5b-8cf2-57feb5833fa6 CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd1de73-aec0-416b-81b4-51047169b73d CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8134a7db-dd4b-4c85-9857-4affd9499123 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff3de0c-d665-4f43-a1a1-6fe558ccc9c9 CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9182f3f1-c9da-41ea-9c96-ebf923172e36 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d30230-3410-4e9e-a602-a56ac4e22b14 CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3003b042-c99c-4423-9d2d-0dd0251e12cf CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23aa6a86-0cd8-45b8-8840-1644a875c36b CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b039782b-c9ac-4dc6-82fc-fbb1e5d8590d CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ddebd7-a9c1-49f6-abb7-a4c89e6b4fda CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08551321-fb86-47fb-826a-242775397b6a CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2a49c8-1a81-4ed4-a224-3e82ac05d924 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e613330f-73cd-4ada-9389-6c5c2dffabcb CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f41ccd-522f-4cf3-ac18-84a6f91cbf68 CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff268e47-8330-4f07-83de-3d0fb003b55d CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16c0a68-92ec-4d0e-95fd-bf9c9a3bbb6c CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bab56471-ead2-484e-803d-c169cbdb7e6c CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ff3a2b-7d11-457c-b442-090015162064 CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 375aab57-aba4-4125-b5ac-9216ddfe56af CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2fb4686-b949-442b-bdd4-0d42376e9560 CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f5e1d17-fd08-4bb9-8d6d-16ca219969f7 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58418866-36c9-4057-9a23-792cf411924c CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fc2b5f0-1351-4773-99b9-07812f4080b5 CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0e00f1-7202-4150-8b5d-06a89fda4f3e CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3bf9d10-6d2e-487d-81b3-cfc33e1a1234 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a674d8b3-731a-411b-91b7-70f68f9246e7 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffb0036d-4c2e-4a83-a4bd-c4f34a66ee6a CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7f9dce-7f40-45c6-81e6-794611f458cc CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a219484a-91e8-445c-8d88-c70e8c59855a CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c569a775-a233-48ee-903b-26bb1c93aa81 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cebbe2ae-8a65-45c0-bf0b-afd58948e686 CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e5bc3a-f235-402d-968a-c11991823e9f CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b8b5cff-f28c-4d88-9328-a0cfc35c8ddc CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bea4a6-b186-4244-b0f8-87ddfede9e43 CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31c9c494-0a0b-426d-954d-83b6f6c0463d CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192de4d4-f7e2-4c92-8b88-abd5de5c60d9 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 884be386-a8fb-456f-a094-f6d5385013b2 CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f7fa4c-384e-4ca2-a950-bc6e7753fe40 CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8118454-c00b-45eb-9792-66cfaef50496 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f194fc72-c338-425e-a34b-5d4140afb3ca CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8873a0de-88a2-479a-8e67-6eda155523a2 CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c52271-da10-41b4-8f93-06eb209e6814 CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47fc4f74-ed59-4f54-898b-a4a1622c4718 CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a14f27-1d42-46e1-93ae-a47461812f76 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7e669f3-ff27-4512-b645-afb51910b302 CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d080a943-34b5-423f-b7f0-521fbec4f010 CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b331576a-2344-4b54-a8a1-70ce78300759 CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec340122-4212-4c12-9c70-899fdebab961 CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b429e35-9d7e-4cf7-af0e-6ab47e02a72f CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb058dc8-8a15-4ae1-aad9-1824c7dd923b CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5b33cc2-91c4-49e3-a115-00ee40f9d45f CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1171cf6-42ef-47c3-9197-58c3a83c4d13 CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07179697-f167-449f-ac67-6b85d1a6c75d CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952e0ace-eda8-4968-9584-c29eab4ab0b3 CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dde2f8c-891c-406c-8839-6540393d7217 CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc2e8f92-b5de-429e-8802-3b229caa1dd0 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c1a1625-851b-4d6e-b72c-4c9eea00457c CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d160de1f-687b-4bfb-bcd2-e257d21728ae CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a73b4c3-a444-49de-af20-c83c802ddbe0 CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b7a808-4b5b-458a-8bdb-673d63c3695f CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9725865-6e2d-4227-a351-f0cb48326217 CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064f959e-0ee1-4117-9f2e-de4df8f812a6 CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fd11948-b8ea-4a5c-90a7-fbfad5f21bf4 CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4125396d-117f-4fd9-962f-be9102966ceb CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84906309-cde0-47f7-b0c5-08d4735306f3 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49fcd9d5-c406-49be-81d2-c508316cc367 CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f29dc8a7-feb4-4fe6-a727-5199073849f5 CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3c9e69-1d5f-4786-8a3e-508067340f9e CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1eeb7933-9c46-496e-a724-132de6051b5a CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee71834-8db6-4e3a-8845-f1892fbfca4b CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59f00a10-d4dd-4dd3-8445-5cace638320b CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7398553-ee67-4eb5-8cb4-da37cf585448 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3ba01b1-d599-41f0-9b7b-ae68db41ecef CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3e7c57-1df7-4dd6-ae48-32d5b33b82a9 CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbca7515-6f8a-45c1-a01c-e9ea117e60ea CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767444b8-c57b-4e20-b7ba-2408278f2d85 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8098e987-683d-48e3-8f7f-fab7d68ed141 CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2c4604-9579-4dc7-946b-a86a4d90feb1 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39f27890-9f4e-404a-a95e-32de34ed10af CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ef7918-c6f7-4580-aa52-1154977c50b4 CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad3f6df4-d37f-4003-a6a2-d56eef7d2a9e CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708134f1-8750-4c55-acdd-d435e372a2d5 CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbcb496b-0c2d-4534-943b-9274d64b2ae9 CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac45e1b5-2ea2-4436-bfb1-7057557e9c34 CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0565b879-2dfb-457f-ace0-1209acd0b418 CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d5952d-361d-4472-8945-4cf8a2b26108 CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bf67cea-458f-478f-9985-5d3901249400 CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f77f3f1-80b3-46a9-854f-3785df477ea0 CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7af2f12-bff4-4a14-a8f1-c430cea303b3 CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5a9564-cfa6-4069-8547-68ecb6ded377 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b3ef0d7-3ed7-440a-bc69-284f5482147f CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121b5e42-e385-4d7f-8780-844a2ecee20a CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 368b92d7-0dd2-4ed5-a195-91dc449fe7b3 CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d7bd0f-b47a-4768-8cf4-88896285d8cf CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 877a7174-bc30-408d-8fea-5afd8093c9a8 CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd932c89-7477-4aaa-846b-4ae3330cde84 CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 956534fb-267c-497d-b517-327a46d1ae08 CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c46849-783e-4fae-99a7-5db3d548eedc CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88e5f61f-b52f-4945-868b-fb4d35e3c4fd CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313dd5f3-89d6-4315-b811-b98e653f0ccb CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15571960-eb99-4cf8-8b90-2093d21c8a55 CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fdaf8db-1be2-4cbf-a769-2f1bdfd62191 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb67782c-4607-4d74-8ba3-84e294b0a472 CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa63e4a-2265-4b6d-814f-b65611124178 CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86b095a0-635d-4b4c-b305-9c36e92fa982 CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adf3969-7a64-4952-a178-24ba3525decf CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4790f03f-21ba-4aa8-9fce-bdb51bc36d1f CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4db3ce-6878-412f-a4ca-3548b086a925 CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5136277f-537c-4626-b53a-86aed719a25f CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3eedd1-4bd6-4019-b9bb-d985d264776f CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bef3aebe-d2f2-4b93-847d-9b460afc5648 CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b5f3a9-e203-45ee-b360-e02ff6c6edf6 CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9f244d1-86e7-444c-ad84-656acbf36ce4 CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5dae37-bd99-46b5-bf25-a33105c6591e CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f67a368a-7921-4d9e-82a6-38297f026366 CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b670ef5c-506b-4b2f-ab3e-c99fd25178f6 CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dda1e11e-c8f9-4148-82d6-7e859aaf96f0 CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2dd3fe-6daf-4fc5-af09-5c37d81f71dd CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e9b04c0-122f-4616-b0de-f838ce008ae5 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e22106-2f87-4bed-a670-eb8763119c4b CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afcf4d2c-52ee-44e8-af22-2e8ad6068921 CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f608a5e-565a-40c5-8a22-4b02c1cc4f0e CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9194b60d-2931-4cce-bc65-d605ef0db9e0 CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d780503-f690-4493-be90-3ec6cbbf3269 CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 422f0b8f-cff6-4105-9033-316a039025d5 CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff12dfc4-3ff8-40df-ba56-e54c80dac6b5 CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4243abdf-3f01-477b-919e-4e462218b746 CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b5e62b-616d-4fa4-9e51-ea5bd16c5e1a CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a25c8a1-d946-4632-a705-79f21461454e CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd67e92e-fd87-4059-81b9-5e8e76691a32 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba4fe8d0-ab32-4d58-8e83-17fb0228dc29 CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958bb36b-d74d-450c-906a-ee49ae30d299 CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f542869c-92f0-4fd6-aaa0-0a85218a236b CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 904938e5-8a4a-47ed-aef0-a4423ec56908 CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a4f7f3-dd97-4150-9668-f655822e05cf CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47061a1-354a-4ed8-b6dc-f76d821cc755 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf07c54b-cf32-4d9a-95de-34738ee3d131 CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4444b69d-2aa5-4cbc-9af0-7d33212b5fb3 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e48035c-6433-4117-a93d-d0c343e3f8eb CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190d0679-d387-4d33-af74-077c93425bd5 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91e8be79-255d-4f9e-9584-e81f0cfd3b48 CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820d9abd-2b97-42f7-bcb7-669f6ac8880c CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8020ce3c-6f98-4563-8c7b-3e17df71124a CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c848f6-c33d-4941-b3c4-416291f9adb2 CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b836e03-35bc-4bde-8f75-3a5fd390b59e CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632fa572-387f-4d65-a6f8-5659859e9734 CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f7ba3a0-7be0-47e2-af6b-c15d172b8d1c CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8d26df-ba76-497a-9545-5a37a5864950 CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e798879-ee7f-40dc-9412-b25d40d247cd CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b999b0-91fe-4d44-9dd9-44d39e1a12f1 CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d40382e6-2b9f-49c0-a20d-af3713ae51dd CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322516e8-e062-4a9a-83ee-5ace0c4ec868 CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60534504-ce1d-405a-b4fc-f869ef4bf6b4 CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503583b4-b716-4ca4-b297-3d6657f36c6b CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27eba5b1-7ce4-439c-b6a6-7ef179215da8 CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2493e1c2-f1e2-41ad-a82c-ddd4c76592a2 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6cf1833-94a4-42c6-b78a-c909f47b9b3d CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f76afe-64fc-4d1f-a8c8-813417cd2b62 CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99017c58-81a3-4210-b727-d5c5164cdfc7 CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a19d32e5-93be-43fd-afb8-357ffc2f0bfd CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31a5d807-26e2-4e3a-ae6a-7d01614c7cbd CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd5b1aa-9469-4b74-9275-62d57f61d2f0 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7f3a708-43f9-44e6-8525-6a843524ff6b CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f626ae69-95e7-451d-b966-b21f432a49c7 CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a05accc1-83a8-458e-81a7-421e9fe2f53a CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8237ce-a5f7-44d4-9174-aef2667ea62c CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60976bf6-8e94-4ad4-9f56-eada0875fd40 CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d568d1f1-009f-44d1-983d-e7c1b8a79fd8 CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1ccb989-ba5c-45ef-98f0-c39a0c71c36e CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce49f814-bc6e-42f0-b335-f532b84d702b CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08a0e391-c1df-4815-9219-ad5f1dfa6b23 CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5290670-f4fc-4b88-ad1a-d1be23eb39a0 CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7f76f33-ed9c-4544-9662-18727874c864 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32424d6-4994-4257-a26e-399d7b648d84 CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f7aab8d-c4f4-4787-bea4-5e5afc731dca CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89007e0-689d-402f-8d4f-496a2295f175 CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 765eba43-c755-4cc0-aae9-5ddb0d560e62 CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ac131d-1dcd-4ee4-9c97-be1e8f9e53d0 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5391199-17b0-441a-9132-9581168af888 CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9896903e-d541-4d3a-a99d-fc088c3626c5 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edcc2063-6a7a-46b0-be19-e9392ee19824 CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cc590c-bc08-44e1-9793-e1c7018d6bcd CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c915117f-397b-4a72-a900-104552ea57b5 CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65e40a9-0977-41f9-867c-d3cd3d889e69 CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a175ebeb-e49c-40de-b71f-c355aea8f265 CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8950560c-2ea6-4912-8aa1-aec5575345fc CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 633a99dc-81dc-43a6-a34c-259e669a36b2 CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9922c0ac-b912-4d79-a68f-aa75227ecb43 CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bee7953-f9b3-4ab8-a5bd-97a6d813b643 CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a0f221-5f82-4f5d-ba42-a2f7879d94c4 CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58577b18-853e-41a0-9db7-a843f37584f1 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0fd505-354e-457c-8856-f15f1bfbdef3 CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a52e086-2e5d-4743-b858-4e91f36ad12f CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601dc0ac-11a9-4c3b-a3e7-a2ccc9590885 CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eef81ff8-6c29-4859-899a-ab82e933fab2 CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9ee744-d465-40c0-a951-e604bdd05568 CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e592bb3-818b-4791-9173-0393bf56c184 CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96509db1-0c64-4d5e-aa60-95a0a3389283 CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eef5ea3a-5e0a-4eed-b566-35bfa70590d5 CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0532bc88-18b0-4afa-a8bb-62e4c7df5062 CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aef75cd4-bdab-4db7-82fe-5d86333ffc8b CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629a0b55-a2da-4764-85db-e785f17afe3e CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8aea9a33-1780-4c8b-ae8b-431128249e0b CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83bcbd6f-1ff4-414b-860b-213bdaa34a63 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2937a321-a7de-4221-b4b8-95e0cf274222 CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c236801b-e4bf-451d-85ca-5452972eec1a CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 970b03d1-20d0-41fb-b9c6-11eced4886e4 CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e43b228-b53c-433e-b65d-709136aed97e CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79467a07-08d8-420b-bb74-12ce082d416b CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbb2217-3864-4c2d-980b-29edb21440a4 CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 906a079d-164e-4030-bb47-167fa1d55a37 CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d857841-dc1e-4009-a0bd-5a327ea4f59c CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17850e42-403b-46c7-97f9-439c0b4df398 CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db36e512-265b-4f0e-a508-9e8f321d539e CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f366f39-0984-48ac-8ca1-52dcbc4c614d CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4db361-2a13-4958-b48d-dcfc7df5c634 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cbea2ae-7d06-4850-9c25-db4712da8b16 CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395093c9-0582-4ea8-871a-02ad865835e1 CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 975ee803-f7b3-471c-947b-bdce0a61201f CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f91357c-2783-46fb-8c6f-45eab4119875 CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5854505-5eee-4fb0-a89b-751e9d272f97 CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33184bdc-40ee-472a-8d24-60d3b4319526 CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9abbb796-1830-486a-9463-a3c1b6a55df7 CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084ce236-c724-4528-b6c8-764d3031d393 CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fea8a1e5-cf68-44ea-9e9c-5aafa42d818b CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efbfd73-60f4-444c-b549-6cd578cea2b9 CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd049ac4-b81c-4dfd-b992-dab2888a5b27 CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799f957a-db4a-4364-966e-bd4de714350e CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a615901c-71fb-4e44-8987-f8788762cec2 CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf846ab5-e137-483d-bce0-3115300090d1 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 563eb025-9562-46cf-b04a-459309f42590 CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4948517-9ff0-4638-93d9-2acde4b91dd4 CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02256e0a-4d0e-4541-aa57-27d0c7b44c02 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44aa1f8-c02a-42e9-ac5c-984e4a5d9810 CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aaa6e39-01f6-4e65-8e8a-bf01404f05da CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a8ab01-0d2d-4584-ba3f-d3d18729cd5e CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55957d92-a958-486b-8cc3-a5a025489c32 CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe45d910-320e-40af-88a1-f31bd889a20b CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5f9dd58-4631-4c8b-9b04-7f100fb3361f CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae569a9-04a6-4c6a-b5f4-700f773bf2e6 CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen def35c9f-2968-4c15-997b-37ec9b7514e6 CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bd79e2-eaeb-4dd6-a436-2b73d8427f2b CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 311fa0af-eecc-46ce-888a-0f7f6ac4c50c CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0cf8ec-d02b-4a60-8d34-aa6629d56f00 CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c63774b3-073c-417f-94f5-c41b73070dbc CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb69ebb0-c621-4884-b21d-3d15af1071af CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 591ca875-8d88-4af5-a928-32d63d50ea40 CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5affcbe3-9868-453b-b1e1-647ade83aeee CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2a6b632-7e13-4137-b85a-f9348483d842 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0d8bd9-a2f6-44cd-b35b-c7cda90d4380 CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e26c5407-0aa3-4b6b-aee9-488af82bf58e CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d37fe955-b441-477c-a2ae-f8aa8a9f2bba CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2c22986-6d5e-423d-aea0-a9edbabbcd7a CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c48452-1c02-4bd2-94cc-8747000cc8c0 CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60086fc3-db8c-41a8-9e71-8407ffb10735 CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed40f4e3-251d-4a14-8ee6-d80eae57fe5d CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70c23909-3849-4744-b476-191e6838f1f0 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdaa633e-97b1-4a5e-8e2c-5e3cc0bcab5c CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b86f748b-5d40-4598-9521-d89b9b650100 CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c14bf8-9a0a-402f-a369-ddc6d8845eb6 CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e016c7bb-c445-4e4b-b20a-a0319b8fc0d4 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a5f84d-ac6f-4311-b1dc-53fd0003df9b CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f210f05-841d-4ab3-8571-d5731967afca CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d407bf-41d7-4fe8-b7ae-de2a9f8ca1c4 CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13f4424f-a6b4-4efd-b39e-63e59c9979f0 CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbe66ad-10ae-49ff-8898-a68b282a5f8b CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37665958-d14f-4457-89cc-335eb87aaea8 CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f94677ff-ac4e-494e-8910-42ac5b84ad4b CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa80288b-888b-45a4-ba06-5fd60f8cb051 CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7f96b1-c805-437b-88d0-f65362fb43ab CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47a93478-6798-40d4-bd97-c3cfe21fb677 CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86405913-642b-4b75-9c2f-eeabd7cadf8c CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 464fdc99-c230-4bd1-8f36-c80771318bba CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b1c81c-228c-4210-b04f-e37af7a9b0c8 CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 950cc6ba-52f5-4f3b-959a-98ba457d529c CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7370872-08a3-4b36-9879-8a3b4d5e9f48 CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c558ad5b-a700-44dd-ac97-9f7a7c821606 CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfadb650-8cae-4318-944f-2d934d5ce98a CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cb33c8a-c2fc-4bed-a425-ed5f9f4bc35f CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6378eed4-3177-4f61-bda5-be06de66a003 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3fb137a-94cc-4450-abc7-7fdab790e940 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f91cb2e-1749-4f89-94b7-40ad070b561e CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deabc741-a201-41ee-81d0-75a4a67c2078 CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 037f7f58-6ad4-4dda-9915-ae2c72332575 CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64a54595-5887-4c8b-8e71-fe4b91e2f579 CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84ad086-f368-4272-bda1-05a8ff444db8 CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95171e94-1dc0-4900-8c14-1d606d7cdd03 CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d101c1d7-ce56-40f9-b12a-7b19ddaaa5bd CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 499b5542-2a67-4c05-8d00-251301024eca CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff5b51b-2593-44e2-a819-2762be31aaf7 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83e1ba60-bb3f-45c3-85e8-99af0efde6cb CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639dc14c-cf3f-46f3-90d3-4a7e95622444 CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32b766ac-70c4-4697-9d14-47eb896e9394 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db7aefd-80ba-4fc4-bd30-c8463acbdd1e CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 933da5bd-2eab-4793-b4f6-6f0528eaa055 CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec350d3-3172-471c-8de3-20ddd059b676 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7c05258-f7a6-444b-8fe2-c1a07e76375f CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9fad9f-ac5b-4d87-b8a6-fe8aa102f82f CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffb1c243-8e77-407e-a811-bbbb527176b2 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ecbf944-11fe-4b39-81d0-ab7bb20d41ce CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 555c0ccd-d117-4421-8eba-04ba4805f626 CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7cfbd1-8b38-40ae-8ad7-b077590965a3 CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2834dda2-b37a-4caa-bd7b-676304ab19e3 CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4afcd3-6158-4d01-985a-9cb2798b1ffd CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0813615d-e913-4779-8baf-4c0fc806047d CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ffd4f22-3194-4f51-81aa-2dc5c18073be CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a821a0b3-dc30-42d4-903a-3ea716d1aab2 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b45e3f-36a7-4d53-9425-f1396354b579 CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46a9601b-669c-4eb2-a502-3ed3fd04949e CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734b10da-c361-4216-9d32-b5e9a61221f7 CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fc2cd9e-077e-4b97-9944-dbaa405848c3 CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3276af6b-0b80-4250-99c9-6cf19a7f5a73 CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bb8bafb-8f91-44ed-9292-64c6be6342ec CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e92a1a3-7ede-4b1e-a931-998a586629b7 CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 520598b8-bcac-4e49-88eb-fa96a7d74df7 CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7182ba1-b715-463c-8eea-48c6fd3692f3 CLINVAR:3436409 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72307bb1-f186-4736-9048-ea6b5e0e1752 CLINVAR:3436409 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66af51cb-90c0-4a81-b773-c1eee8ba727a CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7d5e7b9-c1e0-43fb-be96-7fcf7e07026c CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0313f1b-b665-4661-8d81-832605a247ee CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6451ebe-98d5-4fc1-909b-a09cfb1db275 CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab40e7a-2988-4ee3-b92d-f5bcdc167f62 CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed8a6eaa-166c-4557-af00-07b793cceabe CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938e4122-1581-42e0-b54b-6ab0bf56c0b5 CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a526e74d-e4b9-4e23-b5de-178520e41fbc CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfb3e5b-8cc1-46b2-bc7b-91d804a9e60e CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eba67bf3-f281-42ec-b7f6-43c4641ee94a CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3ccfaf-038d-421b-b887-961cc34a1735 CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 581d6209-cd64-4dab-8184-1688db0de3a4 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7d002a-d7c5-4bc0-a817-7ee34daebbfa CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36440dfd-32fb-42c9-b722-d0eb18958169 CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9818a26-2f34-4fa8-8b19-4575e9124a7c CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 366a849b-b5a3-402d-86f3-1349c518ff84 CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e55df54-c7a7-4b0f-8e62-81c61e752779 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5102d910-2d7b-4f21-a557-61099d85102a CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e09917f-45eb-4989-b188-9f58f6a66aef CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd5cd72a-54af-4ae5-a7b1-71e7cef50cf6 CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f104ba2-7afd-434c-9b7e-305686694889 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d84c600e-dd33-46f5-960b-1f1182ddd232 CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a854025e-6936-48f4-8967-5deca4c65761 CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b4ad117-22d3-4cae-802d-4ceff14a2c23 CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480a8723-9d9a-40a6-9554-25538116b452 CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b534062-5e1e-445c-b44b-fe623795d420 CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a50076-91c1-45b5-8cd0-c571ca5e565e CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6deb54cb-c94f-4187-ba40-4ba93e2e3154 CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2971921a-bba3-44eb-afe8-bd0c43edab56 CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2f8f6da-7e79-4f23-8df3-3a7ac71ccc28 CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6c3cd2-4188-4831-9851-598a77a255cc CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f27dcd8-48e2-404c-b85f-8fd1b8f51be0 CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2966f0-605a-4f7a-9166-81339ad04892 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5e3f9f7-b703-4a13-baa6-01c6eaf9f937 CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bef2e7-87f4-419e-b10f-f2e03b19f9c9 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58b9bb96-c2a2-444b-aa16-2e01962a201e CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2f2664-efbc-47de-ab7f-fa6a1b0db06f CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4931cbd5-f6f8-4095-bdd7-90952d8800c9 CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c699d52a-0537-451f-bab5-277cdffb7285 CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19e4efea-bb03-48a3-acba-5f106e0d30aa CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791291d4-f49b-473e-954b-0f6de8853254 CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84f33d12-c762-4248-9152-de46371eb45c CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bf05c7-a534-4b47-b476-0a50f178b4cd CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc97a28e-1a7d-436e-94ff-6b31e3c654f6 CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f2ba3b-5bbe-4ce6-8c4e-29f2ba7b5fbe CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08505769-70ab-474c-b112-8f82d979f536 CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e4cce8-6ea9-46b7-b12a-1a00e31ed792 CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db1cfbfc-876b-4fb2-8cd1-38b254565122 CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7280bd5-33a3-4ae7-88af-6bf23e0db09a CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c910feb1-a09c-4316-aa96-efc24affe0c6 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a32c583-1d61-4c62-b4e9-8a18f4c8a5f9 CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfbd4afc-f781-4d66-88ee-e6130b42c7ba CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5729e98c-4d34-4964-851a-3201b74cb019 CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2eb712a1-3f4b-4572-b6e3-a76eb66f9855 CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc4a675-1a88-4002-a94c-8881fadbe32b CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 369b6d64-4ac0-4109-9600-a8e23c50a08c CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b534545-cad4-4d02-a8b3-272e13da99f0 CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26e2ab61-0193-4612-90cf-d4fd7fa9f6ae CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d79f9b7-8f7a-4a76-8803-2e06b1387889 CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3772f014-4309-4da3-a83b-92732b7b623b CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb4b881-3137-4731-aced-f4412ef9e5a8 CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4a3e1a0-40a8-47ad-9af4-696146245346 CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b49158-5863-4dfb-afc3-db48044f9ce9 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b04b289d-a484-4afc-ba48-7b4affc96ed5 CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfaa6f1f-4a6b-4fd6-a56f-987338453380 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f35aa7c-a205-479b-8461-bf2571def4cc CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1950647-0fe2-4e82-97e5-822733d721d8 CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dc885e2-af91-4cda-bf3e-8fc2732ac4f8 CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2ead52-c288-449b-9975-dccb10b3baae CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc98e8fd-955f-4e8c-86fa-892455d668b8 CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41597f9a-959d-40e7-ac4b-67c30eac2eb4 CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2c7b0d3-52ec-448d-9b01-4613277475ce CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40129704-e23c-4ad1-b5fa-9db7d165fab0 CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b6608e-296b-478b-b16b-089178bd1c75 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6498568-d4d5-4fc8-9d10-6e8edf7a71ab CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 638cfdfd-edec-4840-aa33-f136915f4774 CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cd8135-baa4-4671-b174-6efc1fd6508c CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 010c883c-a001-4126-b6d4-dbdc1c45907c CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd1b8c0-9073-430a-a4f3-b23d81f310f9 CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cdb2b375-1d42-4268-92cd-6afee4c19f95 CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e316c2df-22e1-41b7-803e-a73a583ce118 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85be7426-bad4-4c6d-ac58-e2b7ae1aedea CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554cbb06-52a8-435f-9d17-016ec82ef0c7 CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60470328-806d-4d1c-9971-a486e5ecfe0b CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01409b7a-6c20-4d14-acf1-5c5b628c281f CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eed7d1f-caac-49d4-988a-076cde3a85a9 CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c77a12-e742-4e50-87f5-ad3514cf8a9c CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffd417fb-6aba-4779-b51f-baac570ad5fc CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a210dadc-0e01-4b72-80e0-6c9bedf45b1d CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b1178e9-83a1-4e5f-a397-142048218092 CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655f44c0-0f11-4a3e-aa16-486f6a46dbe0 CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf48867d-ad18-45d3-80d5-137df8f09a37 CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cb38c0-57c4-4388-bdf1-db167f962e96 CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9205595-5838-427f-a917-2474d38a6ce2 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d2cd37-bf2d-4a60-99af-4111cad0a780 CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21d6022c-e089-415e-915a-b9b86ef4014e CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbb639b-5233-4f95-a8c2-191c57c55252 CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb2126fd-f47c-4d78-a1e6-565eb9b3cb41 CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a5a462-073b-42d1-92c8-48af67371738 CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a1c85c6-b2ef-4675-88be-6f97c3b91fd3 CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3190476-6661-4c84-9d3e-c8481f4c6ef7 CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ae37ea7-b9b5-496f-ac26-c32d65401fac CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d08d3c9-0918-4efc-97de-cf760ba4a995 CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b2b0bc1-abf7-47f0-9986-ea57fc8087ec CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18f9b34-c467-4cc6-af5f-f66ad1100d38 CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5406d4d6-f4d4-4770-80fc-8e354b416ae5 CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870826dc-19cb-467f-b0bd-0297fa3f0472 CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fe8bb58-3c55-412b-96c8-f40466ad8c8d CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825fea3b-a830-461e-b24e-6524c530534f CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0e465e9-96fd-467a-ba1f-2e5041306040 CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a20d672-28e8-4cd7-9a4c-3f8fd56c62ef CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97741024-e722-444c-9312-44075e5ce221 CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431cd01f-9624-4fe5-8808-e9bfc0266d36 CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3471c85-5117-4d2b-a68b-edd5e1a15a4b CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46210d4-84ea-4efc-90a9-a605b6aae36c CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a4ddf9-ebea-45f6-9958-a38e178fa87d CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9370af5b-6f3b-464d-9123-80c5cf6b1a86 CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0267190-c199-49f7-add8-4bc3211100c3 CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d115afe9-72ff-491c-a86e-980c65fcef33 CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba95f578-9727-4122-8781-939c9819d60f CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ea2f76-408a-4b6c-95d8-bd578aa98b95 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e903ac9-6fe3-4591-ae5b-102eeb6440ec CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d90e231-51a7-4c51-b2b8-50ff030ef56b CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cafafcef-314b-48fa-b9c7-5cb1bd7a91a6 CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c2db6c-aab0-48ae-8089-b3ed28c82df3 CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1798f029-b9ee-4e37-a97c-346b37b5edf0 CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce05f0d-edf9-43f4-850e-de643664679c CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0ae0af9-9127-4d8f-9aa4-7eb6f7c653d4 CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33fad1d0-cc88-41dc-94f9-b1765d951e4e CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen adbba43b-f0b1-4e28-8805-58b80afd976e CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c9447d-4ded-43a6-987b-0129bac11716 CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 064f4a55-2c7f-4cf0-9deb-451c6f0fe9c4 CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6d0ba0-b866-4667-ae87-ba5d2b1c736b CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2f1672e-c73e-448f-bb9d-eb70982f7683 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd30a978-a346-4d8b-a6c4-faa9629a66f9 CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a3bf9dc-49b1-4725-894e-9ef387642d0d CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0805b083-e5a4-4c8c-8e67-1d034d8900af CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 874b4755-62e9-4960-aa34-8c728be06a25 CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b393ffb-9a84-4ac5-9a6c-5c0efdeb7dc2 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8af685a0-d8ec-4d15-a9da-969423371ecc CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3d950c-26ed-408d-a97d-7f28fb2d1f9b CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6da69e10-33b4-4837-8733-5f3decbec08e CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba78626-4db4-4ea8-ba86-0efb814c4dc1 CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a011cdee-a293-44f3-8ab7-449f71a4cb32 CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147a71f7-da16-41cc-8ce5-76d63004a249 CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0bac8ba-7997-418b-adce-b7c9e4d8bbfb CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67289ef8-43d3-4f45-86f4-ef4e3984fdd9 CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 315b023f-d9ab-4778-bb21-9af9833adce0 CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766f8053-d3b0-4a9e-8775-55f6d788a9b0 CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99404ab3-2a82-415b-859c-2f97e1e92d66 CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9c0a2d-10ea-4a57-89fc-296d8e8d7b7d CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e6e1276-2ff4-41d1-9c9f-68c84c40a7b6 CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff760453-01ef-47a6-9ba1-072a935bef0a CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b578e38-5a9a-4170-80ad-83b83e54c5ed CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d263fdf8-b24a-40f8-a44e-d9ec507a8e98 CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5de852c2-e9e6-4bf6-95d8-b2211156d984 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83146890-d443-4867-849f-cd8dcfe41004 CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea799529-f3be-4a98-94b7-d194c2a566a9 CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ffe76d-1881-489d-afef-beb3df81386a CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b55308f-8cca-4361-b3bb-1f174e757956 CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7deb57e3-4e3f-433d-ae38-1b2a85a434db CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8acec49c-06c0-48d6-8a78-88e3544b0cbb CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4fc636-3bf6-41ef-9ca7-eb45108e6377 CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b95dcaae-ff8a-4e41-a9fb-a8599d052163 CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364e0996-a825-423b-a7ac-e513b9f0107c CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed97537e-a678-49e3-b8d1-25bdaf9ccc92 CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe45f18-30fd-4da1-b55d-ab6aa231f8b3 CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 233bdaa3-0819-461c-b05f-8de1e4bddc39 CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98d2361-7d25-4a29-a35e-cae872865268 CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37807773-bb5c-4180-9460-fe745f9505bc CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b9783d-47e0-4571-b1d8-f85f5026ec8b CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5d3c9ab-54ed-4691-b3b1-818feb61e69d CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b33c414-d756-4256-996d-4e1fbf4615bf CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67426634-0534-4cb7-8682-21ed8a2331c7 CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42047d80-8d0d-402d-a319-fe5621ec16a3 CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef7e5fc4-1b69-4c4b-b315-85dab54fa3ae CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40371159-b1d6-407a-b1ac-082b5326d293 CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e6b3804-cfdf-4727-93c5-a888fb6c6a5b CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b240f3e-8498-473d-a473-2fedeca391cb CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4603cea-b24e-4a67-a0f3-1ae5161a13fd CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60c78c9-7421-4168-be34-cd39cbc0e1b7 CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3f42187-8c0d-418b-ba35-9efea59678e7 CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4464d9af-2140-4f0a-81f8-8c4fed3c8f1a CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20e6b5b9-a43c-451d-b42c-8e2c72a366f6 CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df60c9b-2dc9-4086-94c1-74d37718bcb7 CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a382fff-193c-4de7-9e1b-ab9615620e92 CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1eb7c1-0d1b-4c09-8d9f-7263a456fd2c CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3cd7bd5-caa3-4fc2-8248-588b1d56c0be CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79f4c25-154e-4985-8c61-227f7ac78ea0 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cca7257e-f9f2-4a41-9428-3722daea1fae CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b920c6d-bc9f-4de0-a283-8d4fcf204bc8 CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 568f9ef5-5265-4d6e-a7a3-cc6afa3332ca CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463a41d4-114d-43ef-b7cf-b18b21a7a213 CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8201c103-81ee-43d4-acb5-3f5968567012 CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf81ba60-0ca0-4ca0-89af-e33e63493c89 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fc8c581-9540-44d8-9e0c-077cf1d52d55 CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c1e38a-cc4b-4af9-ba1f-37be2fa479f1 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c75ada8f-8b03-48bb-881b-ca32a487069e CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ac55ab-7699-431c-9439-d7e3bb399154 CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 503c068d-9c8a-4ffa-a29b-4f6f4bbbc0d0 CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c98dfd-664b-46aa-9b21-8fc015b32842 CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb18ef99-ee80-4b5f-8d78-9a60039d6992 CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c372452-1c3d-4814-934f-c85a51b428c0 CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f749fd5e-5320-4923-a1b3-cec4aec375de CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1ad611-8fc5-47bf-ac40-af8ddbbd4116 CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a62da3a5-8926-48fc-b33d-a0c0f003ab0f CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9776da9-b217-4b7e-b262-f74a357032be CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c470f6d-2496-40e3-bf9d-98a276a6edcd CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4b5fe7-6c59-4d44-9696-8badd609ce82 CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3deb77a6-96ab-4745-9714-5dfa645ac7ae CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca344e8-5917-4066-920d-1804ee416146 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b863843-92a4-4ab9-9183-b5c1f4b061f7 CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a89903-b818-4274-951b-5bf139e77a5c CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac566d6a-5128-47b5-9108-4bd3264d3b31 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cd248e-96a4-450f-9912-706359958f93 CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e6bda71-0f4c-4720-abfa-65d013ef6816 CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc938cec-2f32-4660-9592-3747b1f0761b CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f735379d-e0eb-4153-97c4-4e0cb6541e52 CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85ef497-2fd4-412e-9f2d-301420c2861c CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64767a61-92a4-4f97-b604-bbc5fc6b36b1 CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5948b5-6566-4c17-8fd5-e82c22798e46 CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bab3e212-499b-471f-9ca8-05d75e575995 CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8399a0b4-053e-448b-a2d8-68242a617e90 CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95eb1cb6-5770-472f-bf5d-073f3279c3e8 CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1585ae8-413f-40c1-bb48-276dfadc752b CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbb75c4a-6202-4cd2-8aab-b85cc55b2790 CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef020e5d-838c-4416-89e5-147e9cd8a8ff CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf997095-4e71-49aa-b00e-443a9ba7f7f8 CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7db60e-fbbb-4fd9-bf56-736cd91e13a2 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7038ff40-4646-41d8-9f7a-04f86a12f339 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9d88be-e12f-42bb-a9a3-5073a4a4ee31 CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9037bed5-776d-4c5a-a8d8-b4edbbad8a2d CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbc55fa-51c1-46ca-a9c9-50b6781f0494 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f0c5fbc-00bd-4b32-8218-f7adb39dd264 CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4485dffd-9906-4774-ba3b-d6398249ea3a CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 923ac76d-3d3d-490c-9a68-41148e6a51ae CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c251e2-6cc6-4964-b5b5-bda73fa21e19 CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9d13a49-e2db-40fc-a634-5c09456f6c4a CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08158b93-321a-449d-93cf-f1766a4b4dcc CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 804df1f1-10bc-4504-8951-59cc230351e1 CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6904ddef-fa22-4181-b2c3-6900a1662ac0 CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 328bd61d-44d8-47f1-a996-074252651704 CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ab04f1-4cbf-4166-b2be-81e1ff407fb8 CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67602765-c9f7-4dcc-8be1-4e04225c5038 CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69bdf86-dd10-4646-882c-a422bb8822a2 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c24eb187-58e2-40e6-beaa-2e5190d46ffc CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb6d0a1-b07c-497d-8f0b-81b48ee9ec89 CAID:CA350341981 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f804dbcb-bf95-44d2-92a4-6801bc94aff9 CAID:CA350341981 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ea4431-26e9-4583-b950-e2a689ba410b CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98b45d83-206a-4d56-9f60-8145f26d1910 CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2f5ae3-bd1c-4279-a2f6-1a2251b91229 CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c023c570-c711-41b5-9f97-422403676399 CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad440a7-70ed-4036-a1d9-b5300be6d61f CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad88a2f9-adb8-440f-8d8b-8bb215878707 CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133c1dde-3eec-4e53-94c0-21669fe250f0 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d652571b-08bf-45d4-9f0f-6f4206ca29f2 CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ca79d7-dbc5-4568-ab02-a8ae74582e84 CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a816ad6f-1da3-4e75-b190-2a04c30a072b CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e8610d-33ba-4f9d-897f-993f9d9df028 CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d506b1bd-aad7-4d34-a0cb-85738278ace5 CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7051c594-f857-4079-be46-8f10791ed2b3 CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 132935c1-938d-4883-bc73-effa04f15b5f CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e389c7-c6cf-4a37-b467-c94e2f32cf66 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 556a7d34-6f43-4886-aba9-945b574e179c CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0464e8-05e7-47ce-a890-420ee536cbba CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 243a0eb6-ddf3-4fc0-a948-baf21b76d5de CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33da5e2b-a81f-4694-8a6c-72a19dc3e83b CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57613022-ef74-44fb-a6f9-47fe37cb7f8c CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a953b58-76ab-45ed-880a-c4544d18fbbf CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0843b06e-cdbe-44ed-8bfe-f73d68958d85 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50dff12-2a19-4109-bedd-be337708f3e0 CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a04b2474-38c5-4bd3-a360-4839ba39b026 CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5167720-f49d-4e0b-a0bc-664a275e95a3 CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 755b3263-5c5e-4249-be9d-93aa380fbe99 CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea3f4ba-a164-4c46-a622-eabe57b4f5a0 CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbed2e12-94e5-4b2b-83ec-80abf1ffa66b CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7adacdf3-201f-41d3-a2b0-5d13724c8f5b CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79f5a66c-a32a-4ea5-a180-5ace4ea9843f CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5c0c77-67bf-462e-a9f2-b8b82a898b07 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dca06e4a-b483-4953-8296-88172d87c718 CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0f9746-4f83-4ee0-b627-29cbf090a730 CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76e378c5-751c-402e-9388-099b94a49249 CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e898ef2-032b-484c-91df-656bfeb3cf41 CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc25fbac-ba20-4805-9bfb-fe36f0d92734 CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b6a308-5fef-4faa-adf4-ed034ca98335 CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20a2aee3-708c-41b3-921a-7620ebc5f23a CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2751e715-0080-4c3e-8e3d-1bef5de0913a CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10967e4e-f138-48a1-9049-2f5909da8b35 CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce63f7c6-9cad-40cf-9ef6-909bd521d22d CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 881a91e7-a7c6-4c99-b84e-43e0558bce42 CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffd9651-e262-47ac-8bb0-a51b4ff99bfd CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1e81960-3b4e-4c85-b516-df325a3f4460 CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcc1e8a-4cdc-4776-949d-703d57962f8e CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a1c80c0-d082-4e1f-9984-68a05ea2097d CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91300f56-1cd6-4015-8935-c1dedc592624 CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c6948b8-1a7e-4372-9f2d-0d0c1cc0a08d CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f9d1f4-78af-4996-8c0b-c403e362e6ae CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fdbc74b-bf83-4993-ba97-ba2b403eec77 CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3271b69a-03be-4e3d-a59d-8bef81d08e42 CLINVAR:3668347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 198faf68-6d59-47d5-bbf2-d558ec2a3b58 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb39847e-c24b-44e0-a8d7-e743d392b701 CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74d938f8-8de8-4ee2-ac19-bb67ce154b20 CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d865e096-5b2b-45dc-8e87-f5f88e6afc7f CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e863554b-3980-498b-8e51-90345fb363dc CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e046f9-01fe-4a37-8155-addf0bc0e4c4 CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c48b41c0-f6a1-4dab-9062-e8a813401200 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49799d71-6bda-4e68-8647-428589911c83 CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 511246c9-6961-4e94-9f84-44bc61219f7c CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f25e7d0-58ed-4b0c-84d9-4c88b67a77de CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84a5218d-968f-4b6b-8650-da8fbeabc453 CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47ac8fc-8682-43fe-9410-fcbadfde80a3 CLINVAR:3645433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e26b2e7-ade2-4f91-8321-68e25086ceb5 CLINVAR:3645433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825c3638-d2f1-4317-8b5b-dcd0f3a6d3d1 CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9d07d90-0e59-4e46-937c-2d021c8c518a CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447435c4-0146-4b24-a867-571e82f32563 CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5cba1ad-0658-432d-9288-00c1dfdd8a8d CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953f73bc-fd29-44ce-aef3-9c55c9f64095 CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26aa3341-a0bb-4b55-8764-d938427033de CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae015c9-5344-44c2-9139-0dd561945adf CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4936a1d7-5557-45f9-bf36-66482a49797f CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c44b5d-9c42-4fca-946b-351e7b5e9e54 CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de87863a-5859-41f0-9f8e-cac870c9d1fb CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9129248-7121-49b3-a7d0-5ca980f01285 CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cebdc019-2328-4b3d-9b59-903f452f3513 CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c7c337-5def-45eb-a9c0-01772d168c4a CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3742c2b-5e8e-4808-a991-23c7c53ec317 CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c1e1113-0975-4dc6-8c5f-0983de982a6b CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3b13536-967f-482b-af71-631974c70512 CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e108ce7-1d0e-4df9-83fa-84b84c9a31af CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 507c3942-98dd-4ede-acd4-56cfed5a0705 CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 960446bc-c6cf-4dcf-9335-69b99d93ea17 CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd781bb8-b5e4-43aa-a1c5-e326f31fa0cf CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9246d7aa-89fb-4d35-88f8-7cac00202907 CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80fb3195-1fe6-4c55-850e-d21a269cf15d CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3daac7c3-a8d8-4295-98e6-f02d23ee7047 CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8867348f-cf0e-4afe-bd56-4423ce36b931 CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ad5867-e8e9-410e-8087-8e609decd574 CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79ef8140-3d8d-4feb-9f2f-2d3898aa4398 CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b139a821-c7b7-48bc-8241-e21d36af9cf4 CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8627d833-4494-4cb2-a954-4eabbf65538b CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe3eb0c-4fec-4fec-b4e8-f20070e00f2b CLINVAR:3638595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 210d90f1-6ee4-4821-bd8d-9b190ad6265b CLINVAR:3638595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e131c713-ab76-4902-92ac-4af4b7582175 CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2464d3a-a84e-47b7-aa1a-c39007918c60 CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21aca8f8-ae50-4f22-8c7d-d499155ea248 CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9e7f578-2ab9-4321-b0e2-404f667808b1 CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d84c37-caff-48e0-9ea4-1b3b522abbe4 CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ce5a733-9158-4b9b-ad4d-4ad872eb61de CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98e05e2-2bed-4a3b-8732-d792e0b00c70 CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9080fbd3-da00-458f-8fcc-ddb3f6f7acb2 CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7a9a23-dd9d-4a53-9c0d-529c587ae702 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4bcbb99-3b80-44ad-986a-3744756c6d64 CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc12ab42-2513-4c57-b904-da85c9ec3f7b CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 635c7954-fb27-43d7-b1b1-3080a069858d CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e857dd9-8b5c-4767-b626-b615b9842ea8 CLINVAR:3711611 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f62fd034-e973-457d-95c4-816dd7a5c9af CLINVAR:3711611 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0428072-ef40-46e4-981c-8d6a4a797074 CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0b6d635-ffd7-450b-92bd-110fdbcc7b6b CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a97476-c2c0-482a-927d-5851390e30d9 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e626a9e-c0c0-4b72-b35a-551e64eae1e4 CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8bcf06-c1b9-498e-b31a-3152a57d9f94 CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f5879cf-ec1c-4bb0-81e9-9cad74543412 CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21068b9b-3472-4230-a8db-63188b103304 CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c72b0f8f-fd01-4ea9-a423-d42ee920bf0e CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6bc669-b6fe-4da7-abf0-aafaf6fa85be CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22f5bb4e-c208-49cc-8d93-4ded5daef5e3 CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c4ab41-aa67-4582-b609-69514789216e CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0ccd82f-ed31-418a-baa3-d6d76168a9b1 CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a39ae38-15f4-46b9-9920-9f446a3b641b CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d505e372-0d86-411f-82fb-717dd47fbb09 CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aedc3408-c81b-4c4b-ac09-240d55d8158f CAID:CA355945699 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7ed2bbe-3f57-4a25-94be-3e325e8842e9 CAID:CA355945699 biolink:is_sequence_variant_of HGNC:10993 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85202ae-8e7c-4d8e-a3c7-88142a2f78cd CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6414bda7-097f-46ad-a215-e8dc8d908ff9 CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 188da07b-9dd7-47f5-8338-47b6ab7b7e88 CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e663a091-1cba-4d99-a19d-ac27eb6c83aa CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:10993 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86ba6fc-b83a-4ff9-a06a-a5465e777b34 CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82de34b4-3567-4205-a1f5-ba5d8f8f35c9 CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5a5b40-d714-4850-bc1a-7f4129ccd0ca CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eefe2e99-04fc-4f75-a973-08277fe350b1 CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26ac023-477b-4f21-9f4d-7976282a73ea CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19344165-d65a-4e59-b458-8a637cea55e2 CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17413a4a-0da1-4a48-80df-4ac43ddd1062 CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 586b5ed9-43c9-4cdc-aafa-df1ee4290b78 CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6503b442-0cf5-49ea-b158-651ec1b77bd1 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e105a7b-13d8-4d95-bc29-63d8ede58592 CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178e610c-5174-4ccd-bd24-4580e6907af8 CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2edd2e8b-90d5-43b7-af91-7e52b658b94c CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03141186-5c73-483d-bec3-56f06585353a CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eff598a9-9615-48ab-8d4b-ee6a9fab1247 CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d4c4f18-2780-4259-88f6-ed6226e97798 CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d13938f8-94a3-4d5e-a594-0a4ffbd1cf64 CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5969f58e-443a-413f-bb50-5398305c22cf CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc871ae8-cd76-46d5-aa68-ccedff82249c CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07dd12fa-c62f-40b9-8b1e-b9f2d8c74ccd CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fad726d-4a7e-4586-ad06-ed75172eb370 CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8939004b-26a5-47c9-986c-6a4589902539 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34e6e399-49a3-494d-ab43-2eaf0487970d CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac95294-1c3f-4f67-bba8-bf7b64076517 CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70091320-d969-40ef-bc8c-24b1722f9d27 CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8965cea-cf1b-4b09-95bc-964011b4fa21 CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8bde2390-0f65-4782-83ba-0ad8fe09da20 CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b7a9d5-6b8b-4740-b654-11804078ad7c CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac1d7b1f-4a4b-4b5f-b85b-19ce8e1efb54 CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96382636-3092-4718-9e2e-187230016e2c CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8648b096-dfc5-460a-9a24-b00169a95aa5 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d34ecd-0d58-4cd0-933c-d317fb63c50e CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc4a56f3-a882-4bad-9036-d9a67f9d6cb0 CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e80179a-2ebf-4ca8-9054-9c7312210c6a CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17ab8d32-f777-4fcc-955d-a3a46a62466b CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49086dca-f445-44e5-8e8c-ccb5b3d8e22c CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc61b607-224d-4160-b230-e8bb2ead49f8 CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f155d4ff-53e6-4f84-a78c-2b24dae8744b CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17b9de2e-a738-4745-8763-3cd78ecb2a5c CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1282d31-d542-4901-b250-713ce7877223 CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5743480a-1d8e-4989-bdb6-115ef84871bc CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6538c63d-0749-4484-8412-b594e27ec1fc CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccdd495c-88fd-49ba-91c9-c06f216a1806 CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d7887f-a3e8-462a-95f8-813bdab7ff8c CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d25e714-78d8-4cfc-9f9e-cf4bb76be64f CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde0dd7e-48b8-442f-809e-34232665555b CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9c61d38-cd46-4c8a-8fa9-0043e0544350 CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbdf9be-474b-4a7f-896f-b02fe58102ec CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0a660f7-88b4-4157-bfcb-00c7f385171b CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36212151-6896-485d-8982-2b522af849f7 CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85a0064c-c57d-41ca-a109-301e78dbaaf8 CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e5386d-a8f0-48d6-9a2a-1b0279015228 CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1e4a256-bb54-4b4c-a57d-178b251b4c32 CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfa0d39-31a6-4142-ba8c-3fcab400164f CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42d6f75b-ec26-4a79-b4f5-4dc84371a891 CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e6eb0c-e66a-483d-974b-a936881295b6 CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a89c5a84-9cc4-4203-8ff1-f2e858b4d9ef CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4344c0f3-0932-4717-a74b-112f6e5b110c CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3d02e90-6e5e-4d31-8f2d-57fba0b45fd7 CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c240f398-30f9-49c4-8cef-d96a3cb87b14 CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen befcd793-fe12-4dc1-8064-f99207c4bd65 CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57eeb7cb-2a02-411e-aef1-eca4496498f4 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5764265-cf18-422e-86d3-7e3cd9f0d405 CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7953a0fd-4b18-430b-853a-5343826626e5 CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fc4f3ce-92ec-45cf-96cf-03b4584ecc13 CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb5f692-450b-4eae-bb51-44466422d2f8 CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b3c2a5b-c9b9-4532-990d-b4dc877100b2 CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd7af04-b617-4a67-9b0a-0492843ecfd5 CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ab1e09a-6b5a-4820-a8e5-b170cca59040 CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644e9dba-214b-4f49-945e-0457bb8ca31e CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a74cbedb-cf4f-4f94-a12c-f31f0c5365d1 CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51440552-a3f0-4dd1-87b7-2d03f9f56db9 CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec5fef94-aa2c-4680-ab5b-48d8ff304c86 CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b955a9-da74-4ab7-ab6d-257bb47a4d18 CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ba1e717-e315-4d9f-bf67-eb9347f2eea6 CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee446957-0b01-42ce-9ca1-586b559d3978 CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8ccacfb-2f71-4425-8ceb-ae36b7e0f8cb CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7124b4-6ac3-4aea-a935-732f0359a3bf CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cab7f8b-33ee-409f-a057-f0e5b4e26651 CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31ded34b-f05f-4976-87ea-b32739cfb8a2 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc425df5-5b02-4ab8-95c2-bd8c83efc7ba CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c5f0990-1e26-4e1b-b1dd-5a4df7aac2d1 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efeb9f15-f4de-4fbd-9426-a50d5c371d21 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135c7607-5534-444c-b511-c2b13854908c CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b380908-2a73-4918-9bde-8438712ec471 CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c434283-e863-4929-a617-6284586908e5 CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a00799af-90a3-481a-91cd-b0a68fb48d8d CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a33e2c-142c-4d23-8c41-603497958d9d CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c67ce8d0-1ce2-4009-8a7b-332b6c909a53 CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe03e1b-fc59-4269-88f4-8ef978a5eb73 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17063e6e-626a-4ba9-9eaa-15dd6a46cc68 CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbcf042-5fb9-48f3-96a6-8961626862fc CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aba22171-f3d0-45a8-a88c-239ff6b67f38 CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258ec895-b88a-4c8c-8a63-ed92ec47528f CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20d700a7-7e44-4243-8ebf-cb0e35c94efd CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af7ff7b2-2f60-4808-8070-54ae213a9dae CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de778754-f6b8-4ce9-9093-ae64576b9d75 CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbca6c25-925b-4b33-93cf-f6abbc7aed65 CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe4183de-4a19-414e-89c8-bc0b97110d2e CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8623a38-8d63-44f8-8fed-bc34df6c04f2 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d9a52ba-bee6-4426-a01c-116d7fb67f1d CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5688253f-2b99-4ece-8ea1-4d3ac98c4d49 CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6230c900-959e-4e18-89a9-93a040ada4d5 CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49da5221-ff87-4d57-a8ff-102263a3ee99 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d4e3e22-6243-434f-be6d-62fdff29e6a4 CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59bf21c-2cd1-492f-94a6-65c55f5745ec CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90320847-07c1-47c8-b704-d270a3c455a1 CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0a50e0-047e-4a3c-8e51-004eb918988e CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 506831b0-4979-4944-bb5d-3564ddbc6bad CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee05660-85e0-4843-a5ae-471e286771ea CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07d7b81d-6780-4e3b-ace3-9f913ec089a3 CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673c0e63-8eac-4453-9e91-1f5bcd81265c CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2734b2c6-a408-4a01-8af9-24697e0cfc85 CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc17dd30-6118-4d89-8fd4-fb5194670720 CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c39c8f80-ea28-49ad-8cc6-200ea835b9f8 CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2edba4fa-492f-4cf3-85bc-f0098219532b CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cebba71c-cb6c-4c7e-956b-232373adad2c CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb355269-abf7-41bc-bcc3-60b53fb17916 CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17ad6849-02d9-4852-bbec-59ee7799376f CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3da1aa-18db-41f6-a58f-5827ab1ba192 CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b9fa3e3-a9bd-430c-8e8f-27d26b0df651 CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97138113-954c-497f-bdf4-2f2d2c0f4ee6 CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b210c09-a29c-435d-ae6d-4f041d18f5c6 CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a158ef-f8d0-4156-b0c4-74f8948e0bc5 CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 006a087f-c88c-4ec0-bd3e-38e3dea24dee CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f38d6e0-a5eb-4b52-934a-cbd1cd60a4be CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd1d71f2-88c4-4ed6-bd9b-5e699da31357 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c1a3c5-1e41-4228-99bf-e0091cff7aac CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d5e0580-46c0-47fd-b144-4a48a0f818d8 CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2100cc-ef8c-4f13-bdc0-a9140e8d99be CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98856219-ac21-478b-ab19-f3cd8f705a6d CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1543d5d3-3960-43e2-8a19-03b689545b3f CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d50ddcff-9329-4e0c-8857-dd94f613d9a5 CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3599b4-935c-4e42-9151-ac24aff8417b CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65403c61-9788-47ab-9260-17f59a270b2e CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef7dd9dd-5658-4ac4-8986-a3f61e3dd48e CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65f1ab54-426b-4db8-a21f-71b6e2f328de CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd54db86-5b3e-4143-843a-ec9a0e2ddb0e CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7c3eca6-0279-4d57-a445-e839ded85440 CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080a9b7c-7633-4154-9614-126a87f8a015 CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea15cdb3-f3f5-4fa9-89bf-21b35bd60c2e CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae208b8d-c7ae-4778-9e9a-b92412c54d22 CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c2ffbc7-ad3a-4698-808d-cfc52f3bd72d CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1e7ef8-4214-4929-b574-9a6fd69dd64c CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f46df901-b143-45bb-9825-46ce51fc1be8 CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d389a9c8-6375-4790-86ea-01001dd287b6 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 250efbc0-d4fc-4fb7-b888-a3e11e51d54b CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24de3d80-de0f-414b-8453-9582f921c06f CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f0ccee8-0ec7-4c1b-845a-619779bd7bee CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef49c67-8b85-4656-add2-77663cb5c84b CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a278bf7-07f8-4283-a7da-0e5bc2f0577c CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a5a5d1a-c347-4753-9ef0-1fca8413784d CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9d6d38f-84cf-439f-96ee-4970ee37518c CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84161e62-fc8c-4c8f-8df6-c8ac4bf79389 CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 170b447a-79ee-4aef-b84f-5cd9f22623ac CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4aabd5-c584-4c09-a044-fb1321bd239e CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da28d0f9-711e-4e47-a8fa-da234872676c CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934d1688-efb2-4eb0-9354-f2a5ea564dca CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 972a4dda-3dad-41f2-91c3-339f94898255 CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c869b1-2e2c-481d-a56a-b1f05cff9356 CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f65c314d-79ef-42ba-a3b8-6947ed1cb706 CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6511020c-0e02-4a0e-b7a1-84e0839e8543 CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96f081bb-bb22-4b84-8ad6-f7ec55fb24a1 CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77b900f-8277-4415-ad08-b9f4230b7e79 CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a916cffe-b5ec-457f-b655-3741d2622079 CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6822848d-dfc0-4063-8b38-e89bb350f838 CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd1ab1ce-d1dc-4cd7-aaf1-ddd69eacd35c CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb630460-a806-4571-9b13-42ab5f9f53c9 CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 477ea116-3d43-4e0f-b599-9f2364ea147b CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faec9648-bfd3-429c-ab01-7307751e053e CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e0eb3f0-858e-44ae-9700-0fdbfda5c5ea CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7d1d73-a5ee-4c68-ada6-5e40b8afef3b CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71b12930-ef21-4ed9-b17f-fd800602caa9 CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a23fd6-e566-457b-9841-8985c53303f1 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9243d56-26f9-45c1-8ab6-ed32ae367111 CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b3cb45-d995-45d9-a039-9b7332b8dcbb CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 846cfba4-26b1-4a79-abac-ac8cb8b57687 CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457376a5-75b0-48fa-aab8-3516497e9089 CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5170d4b-9429-4b90-8625-46addf9a4867 CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddbd2a3-04ca-460a-a518-f949b6929f37 CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd7a2f25-c065-4436-894e-2a2f89f0c725 CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3cd5195-ef80-4cd2-949b-05dbf075a2ca CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f64feb8-7df6-4ec6-ac86-008c4b51e73a CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a45752-2cc7-40da-a6da-9e575566af75 CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd492f0d-280a-484b-90b9-41e21437a8e5 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef160d2-e21c-4ee5-9584-984240b2da94 CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c19269fd-fedb-4acf-b075-0b3317e799b7 CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231d11eb-a404-4ff8-b30b-6ccecc14b48e CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 151d04ce-9b49-47a8-8b37-d362ae6e54d4 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b92b2f-dc95-4d33-a018-2344fb4514ac CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b095dbd8-84b0-421f-b875-4e51a5142bda CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4741fd59-fc14-46ae-8fc4-4f4f1ffd6444 CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80f99dd3-3680-4732-b4f6-13f98001b498 CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7386d39a-b987-4cfa-a8a4-6b92dcf6af5f CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 242cebbf-0884-4224-a361-cc12ba72fdb3 CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c553eec9-d696-4807-a7c2-aad9939e2196 CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bf05840-4f4d-4402-a932-de078665c421 CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3295cba-1a92-48bc-bfe4-744fa5a7e687 CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ddc3d79-c5f8-436b-a8ad-17fd03a981be CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338ce871-52b7-4ea3-8cb7-66ad24bd1537 CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89fe4366-af17-4938-9e4f-9806df53ff35 CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e29059-b747-476d-a6cc-2623970051af CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19b5a859-ca61-4c83-a552-9c859bf88858 CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f952e9-7c6c-47d4-9eaa-d1af0769799e CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a3a1ab3-6a2a-4a1c-badb-452fc21494e5 CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee529346-5ab3-4533-b34b-0297cabb496c CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed4fbf23-26ef-42b6-8ad2-b5c1ec780847 CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7210bfa9-8ceb-4869-a5f4-d180c0e49843 CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d6435cf-b408-4eb5-a11a-368f8af3d567 CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3875e12f-05db-4ad7-a5b1-17aebdf934cf CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6d8acec-ce3d-40c3-99eb-d8d1913eb07b CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e37d3a-b4b3-4e02-a62b-f6faefdf2184 CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40d508b7-8bca-4a8b-b0f4-32a5bb88f0c0 CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f474819-824c-4a5b-9755-245e3afc3b33 CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f07c5715-85aa-4bc3-a74e-3b2632435af5 CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2ab2f9-339c-4072-9dff-0033c4bd72e9 CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf926981-656a-4427-894e-0265cb95950a CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d65f70-9f9b-45e4-b0c0-aaf915a16247 CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8062d8f5-048d-489b-8fb1-866a72bd1152 CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1c954f-0daa-4aaf-be3d-449705e5185b CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba641efd-ca4b-462e-bc13-1bd90b92e6d5 CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f530d0dc-b58a-48d4-bdec-a0c1cbfbc1d0 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b97b1e19-1dfe-469d-a7ca-7cb64d8f4b00 CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352164a6-ee48-4a69-a6bf-14349feddf5a CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bc80203-f102-4749-8f14-3510e464d09d CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf2953b-6037-4926-b056-289487cbe979 CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5069685-9991-4b6f-be10-1499e96668ac CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773fa268-bdf4-48b9-97c0-7809d3375fed CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74f4472d-5904-46e0-939d-344ae990af15 CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5973f4-12fe-4f4b-aced-1d5e9d787a79 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b9c1814-d7f9-4412-9f45-76e940ea83db CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf25394-55ef-4867-8549-6a363bf6ebe6 CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27f5411c-f51f-4c5f-b60f-c4c4c0b71cf7 CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693c4c23-8860-487b-bd2a-17a638ea02da CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21c886f0-6516-4624-8f17-f3a4a78a3ec1 CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef96da13-95cd-49cb-9c11-6de63c874c11 CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0763fb4-b524-4c8c-b99f-d41a9b0e456f CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d32dcc7-63d6-4f7d-ae46-3f564baf9656 CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cff6811-ccc4-4ad6-89bd-20a95af29f56 CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75283f93-72fa-452e-b079-96623ace65dd CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dce6a7cf-e061-45e8-86fb-31348c4671bb CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa11131e-87f1-4f9b-ae3a-6b90022a5c7c CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cbc0e26-e971-43c3-bc39-7f1652ce67bd CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f0c9f8-b932-4107-8f14-60ab3dc589bc CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ece978af-9e0a-47d7-9d60-4dec9a3ded7d CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d271a2-a6e8-40f5-87ae-4a0350cab607 CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3513205d-ea9f-41a9-89ec-fee103575573 CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88cea7b2-25e5-448c-a3ba-6f002bc8811d CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32d3ceed-24e9-41ce-8fc2-32796794c276 CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e092350c-30f5-46be-9089-fe73c9b1e55e CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1444f2d7-c9a0-4c8b-b7e1-b3a000a7d79c CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2a84af-66a7-4c22-92b3-88ec67d183fe CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef69eb99-267d-444a-add1-fe7bf7931f6c CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8545a3a6-7313-4f0a-932c-5ea04ada217e CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a9da7bc-0b93-4335-b9d8-0aaa3bd9f978 CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5bfb1dd-319e-4f06-9bb9-e765259e87ed CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0dea201-0f99-48ec-972d-66dcb6bffc47 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16a2e41-4c66-4560-8f96-62f9f592fc6e CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b718fa23-7ec6-41b0-be9f-84320c22cb01 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f52fbd4-4a08-4ce2-b54a-666f0e74905d CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f232b3cf-4435-4f22-960d-2f9d025d8afc CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76424032-5599-4342-9c13-9de723113f36 CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbc2e3a0-1143-4622-a98b-d0058fb17f1a CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d40513-01bc-4452-875f-ccf7e03dfa11 CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b9f4c91-5013-4e51-9b29-02b70c54f561 CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7b88c5-42cd-4823-b1af-b1f9d427a84e CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68d0984b-dbf9-4ad5-bf5d-0af08f2dd55a CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39595980-fc09-4594-a4e8-7a256c6c2fc3 CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3df0f859-ede1-4ab0-9715-e96e922c4a9f CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a26c5a-9efb-44c5-9575-402fd1d546ef CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54c098a4-4009-4fe3-848e-e74b75848a6a CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b55687-add7-40c6-9d9b-82c81b6c6b3e CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a21da290-1a9c-4c44-a521-cb25803655ab CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74351410-81c9-4f7f-bf48-c7336064a967 CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6310ebd5-3969-409e-9f94-048ca965e2a9 CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e265ec15-8579-4e70-8313-6209438a93c2 CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf7f46db-7fa7-4a88-9d23-66a292104768 CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b522754-84ea-4f7e-b962-8f813b418f9c CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f0f835e-3da9-4834-9d0d-0a39bb0d2cfc CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5906f5f8-2c3b-4337-912d-3ab2b206ee36 CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2837ae7f-58da-4beb-b069-2b137fbc0448 CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bea61a6-5d2e-42a0-918f-0971afd237c2 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4aebc409-57f3-42cc-b71c-9f33ff81b8ab CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9881bd-e095-463c-9725-31f14f2c13ae CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2429d428-89e8-4760-98a0-cad1b934efae CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a234ffb3-f9a4-4516-9426-1f30e78e07d8 CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 661a1925-6f30-4c12-86f3-792ee8e26a23 CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270fce57-45b8-43d5-aeec-2e1dcd4e90f0 CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cefda04-6f59-41ca-9266-eb5cad0b0210 CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad4c3c7-76b0-4a80-ad3a-c714bc6902ad CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65412a31-f529-4f1a-9a0d-989fa882ff87 CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921dcca8-d9f6-46c6-9aba-7361b454f251 CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11f40597-bad2-4359-873c-b5dad0616d7d CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad02cb4-31f7-4cc5-a01b-db7bf7ec1adb CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2506a0b2-15fb-49e1-a550-3bfd60bff515 CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7c0b49-502f-4f91-a75d-774178ff7dbe CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6ed4001-4a01-48a0-9255-bca5eee1c634 CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d04ef07-9745-41f1-b805-af292c9b2bbe CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ed50913-5d6a-4a9e-b45c-f90a02890a03 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20614e35-281c-4b7c-b8e7-53959ff0d84b CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f12c6f66-14cc-45f9-8902-a7540c7db5a6 CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487fbe7f-ab0c-4ba0-a097-c80db2c30ecd CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43a6d6fd-54d5-4897-bc6c-86ef351788df CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302b3646-5cdb-438c-a178-c6f93c516580 CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7520fb63-c261-44e8-b70d-9860e5a65286 CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8f356d-b0fc-4c2a-bf27-112800064c07 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d753c40-7cff-477f-923f-daadb6caa4c7 CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d45264e-5a44-4c0b-9397-8a3ebc481bfb CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ecebb4e-53d4-4656-9433-acd1a9e0a352 CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59368480-6339-41b2-9bfc-7ee9b9225efb CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c385f79-c994-4589-9f5d-7d9f9f3d8109 CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856f6bdb-468e-444e-844e-e6943e873a1d CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63ae660a-7404-4a37-9082-0e6ab7976836 CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0920e8e-ddf1-4639-934a-e0e6e0f0cf8b CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de3ccad0-cefe-42d6-a8ea-97fb47236b40 CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e449233a-b465-4d29-94c8-485a9f2b9fb0 CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89131593-5696-4e5f-9cb7-6894649b585b CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044eb00e-b4f2-42eb-b5c2-ba53248e9ad1 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d592f98c-0393-4c8f-b8b2-ed562a2058ad CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff95d76-0512-477b-9634-329801f9df34 CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c83490c-1486-474b-8a4d-8e4082a85686 CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27327549-82bd-4b54-a4e9-a262d7d1eb92 CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25f90ce0-bdae-413b-8546-a0c3cd4e6081 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1507940d-f158-4895-9b9f-9ee730f68aff CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3de36dd9-e9d5-4e17-a163-c93043ed72d1 CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c5bb6c-160b-4fd4-8368-72cf0fd72897 CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfe57f96-8feb-47c3-a26d-f3a8cb163d09 CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fea0b52-a3d6-4482-b41a-c8cb8e5040fd CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7c61ef0-c14c-4cef-a4e3-314148786101 CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cf0f85-2049-4fd1-b422-91aad439dec3 CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c60613d-28a7-471b-b50f-98704693fc76 CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97199cb-aa5a-42fe-9d8a-10e4b0659f21 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e26f2f69-62cc-41d8-8f11-b75c21ec13e0 CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc433e86-ebec-4faa-9076-e9bb5115076d CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15e6b6d4-3d7e-45a3-9fe6-af3424c98cb6 CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edd8f40-d911-46bd-bfbe-57edd32374aa CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a519f4cd-f32f-4227-8eae-6be2209da4eb CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c959ebde-c8c7-452f-a5b3-538a7afb0809 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c03ad258-2822-482d-95b3-477fc031f718 CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f6c16b-40c6-4105-b090-cdc8f411a44a CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e86b726d-3c10-44d5-abfd-4bb0d43a5bd7 CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc34a17-1ba8-4fca-8725-b9b6fa2e3940 CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8b92645-a4f4-49b2-96b9-c132f6fbba27 CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e45721-3316-4481-be66-bf7a3e8304b7 CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 486b9e9a-1c4f-41b0-b445-15929132cf85 CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c535a5-8b02-4297-9c32-03c2ff4ed2f5 CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16d13024-ed75-4b22-836d-2047dedc86e2 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed825698-bf68-40f7-b6f3-050471e2b237 CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a350b86f-114f-4903-9ad2-913796870c68 CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b0717f-b247-4bf3-9ad3-96ed6ec888dd CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd0e6fcd-1fd2-4bfc-825d-58e5a7f105ee CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0650d627-2592-4901-8bb5-fb6e7f02c6db CLINVAR:642531 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ca7bf48-3eac-4bda-bca9-31a9537e945f CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a139dd4-389b-4f8a-a5e7-75dee70cc7f6 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d342058a-58c3-4cfb-887c-b470a1ce89f7 CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2fd5e2-4652-4c0a-b341-d1e93f25a2ee CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ded8a1e-7aee-482c-abfa-637263256550 CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b91848-cc7b-4464-ab3c-412c0dde1b15 CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7add2f57-edf1-4b72-b515-8be43942d191 CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343bfd16-4309-49da-9a08-e961926b3f53 CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbc767e7-5d0e-4343-83cd-f4f29ceb8024 CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c90a82-a5c5-4eb2-8ca0-accd56c831d3 CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cadd1578-0e25-47b3-8273-91e244785ce9 CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267a8d85-e7f4-4d88-877f-aa6bd9d7c573 CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 352f7014-ab7f-4ebf-aede-775ebeb849ea CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576a326e-0872-4c14-9483-458019fa4353 CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23b9d769-ff18-4c68-8981-2c5f4d545b40 CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc12eb68-2925-418a-bd00-6627b7dc1ca0 CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ea0268a-674f-425f-8cb2-a2ba1f47ed2b CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c68fb82-c678-4c57-b5bc-2f931d367665 CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8257d344-816e-4391-9b63-1868464d03f0 CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95414f2-e64a-4ecd-ae9f-798795ca8776 CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ab49708-be33-41ab-89d1-e1244afe796f CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f29948-97af-4fcb-98bd-58c6d002341c CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eba359f0-c294-47fb-bd77-1ea467e5a451 CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce6ed27-7eca-45ff-8fdf-f3189bfb614d CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 993a92aa-9252-49a6-988f-b134fafb2cd4 CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98297417-e3aa-4c79-b93f-df5dac3abc78 CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19335759-b824-45dd-ba7d-1028bc197c96 CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c40177-47ba-430e-85d8-cc083533f755 CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 626846f5-c676-4a87-8441-26584cda02c5 CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbd5c3d-4aee-4940-8166-fe77ae10fb7e CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de674888-678a-4431-bab7-2ba7b64cd355 CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e03f3b-5b33-47f3-92e6-f5cea99faa43 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 051805e9-689c-4132-a296-b4e6b1fa8230 CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a8d5fb-cb3f-4f9b-91b5-5fddfb458c54 CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b4d54fc-81d2-4398-95ce-668ecc1ac2bc CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed57b8ab-9e60-4927-befd-1f3599a37b13 CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88747fbb-2728-4ad2-adea-a231c524132f CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e6c61b-9100-43df-abcc-b42fce23c2ac CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7315807a-e840-4654-9f31-178b14bd9928 CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2a5b65-04c7-49f1-b111-97eaef719fc7 CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc9e7a96-76ef-422a-8e8a-8884f578ddef CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01984425-39e9-4720-bba3-52e0df8213b2 CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5afeb8dc-a91b-4ff8-9c1a-079c47bd23f6 CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd5b9a1-95ed-40a6-9378-565235aeeeab CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5565a986-a8bc-4726-b0e0-883144b909c2 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ec0f1e-cb24-4f2f-bb8d-bf0f54a36671 CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fde57b46-59a5-4ec7-88b6-9d0efcc2f12b CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b32be1-dd76-4cd8-90cd-42904b3955c6 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29802501-715f-4542-9082-063c60afa792 CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc7b924-f9ba-4c95-a305-3cc9ad58862f CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3446ef4e-5c3e-40a1-bb28-89627c6e6734 CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fa7729-8718-44e6-bcbb-4d77ca6a52c1 CAID:CA355946488 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b895baac-1b7d-420f-993e-d7e6330f651c CAID:CA355946488 biolink:is_sequence_variant_of HGNC:10993 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688531ac-8b49-4fab-b7c4-ec24ea8c8853 CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1036b8c1-1ca6-4f0f-9755-a042bc70143a CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6c24e2-e1e1-42c0-a87c-e1c3d1cff0bb CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3454725-3e35-4f90-b4a2-42a91c4acee2 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cab5a4-a311-4fb7-9022-d21ff26c2cdb CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a02e2780-a4a4-4276-a22b-8191580acd57 CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1183a8f3-c99a-4289-9b0d-398a559493fb CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f1df119-f473-458f-a36d-db5405ba5564 CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b022ec82-63c3-4e3d-b26b-7e2f897b56b8 CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ddb4487-2111-45a2-a47b-d509197c24db CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720b5b6b-cbba-46cb-9182-6cd4768d68e5 CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f58b94f2-186b-4b1d-ae20-be755dd7b02f CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f5ffc3-4133-4ded-a54f-82eab01ce539 CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20ed597a-8512-4ab6-9574-55e7ec974415 CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbee4666-6f87-4699-836a-dbabee296dab CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4e47170-9de7-4c8c-a809-de37b0d0c952 CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5cf11ea-c654-4e3c-b99c-cb8e66fa7300 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b1477b0-6291-403a-9c3f-e8a8a8e7921b CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e038059-aec3-4f6f-9b38-53471c391ed3 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9258c2d-f8ed-414d-bc4e-dc58ad09b0d4 CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33cb8ce-c62c-4112-8c18-1bf0a6acec13 CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c7de462-28cb-43d9-8a3b-ff51609712a8 CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c38abb1-8fc3-4b25-9f20-e9ac23827880 CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a1429b9-dd0a-4ba3-b824-a5e04d04aa29 CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea2a2fe-7922-46ab-90eb-ed2f03a0d127 CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28ec22a7-2412-4eba-a828-437e37638856 CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57c5e6a-cab2-4fa2-b605-4e103789341b CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df753921-154f-4e9f-a3e5-6d358badd07b CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888e9d86-b231-4b92-ab6f-70bd824a685e CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91359b1a-3319-4ea2-a458-fc3749d032f4 CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d018d1-7271-4a39-9720-0ae3e8727fea CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89bec6c8-8a70-4b26-a002-59c7bbaa7416 CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfaf843e-79f2-41b0-b243-65b6e8bbd4a0 CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ee5d14a-edf0-4425-87c3-78c838e21c2b CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919b3a28-187f-485c-9af1-de5271883b11 CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 557d11b0-3239-46d7-b635-d8ef147523ac CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a77e598-5f08-4731-86ce-edf997bcc4e4 CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c796f148-78ee-4885-9c03-ee6548d06831 CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd8a2de-3e59-41bc-a8f1-ba6d0df62e87 CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e914c41b-3be3-455d-b2e2-e3533526faf6 CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d330048c-38f8-4d83-92e2-4a5ccf748f79 CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 948a55ec-ea91-4bc0-a24a-7da6c4319136 CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f85efc-29d8-42e9-b1fe-71026a7bcddd CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3d35c03-9c78-4c34-ad78-fe3638035665 CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19370c7b-794c-4cdf-8e3d-93abcfee013d CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81a3d56d-dc98-4a8f-98f9-0baa5cd6296a CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a83084-492e-4737-a4d7-cae45c48e5c7 CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb701227-9530-4a34-bab6-e6ee2f10e610 CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d69740-ff97-4a3a-9019-cc7d7c5b38b9 CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 139aadd7-5e39-43d2-827f-b14a6666c262 CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5f03f9-d430-4c97-934d-068ce27842aa CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b682643e-76f1-418a-80eb-3ecfa0a77d70 CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba3afc4-4aa5-4ceb-8145-3f8283f10611 CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 491a9807-1acb-4d38-9a58-c56aaf27449e CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efffd4f-8f77-4add-a03d-605d7fff3181 CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50a48996-9d8e-460b-be6a-8c4a574ebb6f CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60215a64-c43f-44b5-96ba-7f58c8021a11 CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6da44bfd-b8d0-4315-b34a-27b32f5a26fe CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa34cde-e71d-4590-947d-9e7586a52855 CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e09960-d9cf-44ec-b2ba-b7d3fff46b84 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a2a003-b2f7-462b-9296-acc8a5a2aaa3 CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fec7a46-028f-44b3-a3c9-ed1301ab61df CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0152c65-3aab-4e8f-a424-f350a000545f CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea75f89b-0148-43b7-9ed1-251195f15f53 CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321c29e8-b2c5-4cbc-9388-d44ff8a6eeb4 CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b0989ed-5ea9-417e-a68e-4a14b6a42faa CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8180f8-25a4-4b48-a060-97662e4d8aa5 CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fd818a1-9461-466b-a811-34ed1add9ee3 CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f071a26b-c2f7-4a69-aa5f-d61ea41e7411 CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35e9128f-e3ac-4070-a5b3-e55684a86afa CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eecd9a0-c7b7-4cb2-905b-bfa3e27f2673 CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85add6df-e9ca-426d-a002-41a969c65ab3 CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942026d0-7cab-4fb6-b012-3799d7b37bb8 CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe01ab3a-c3d1-403a-8698-b99625719b99 CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5ed5b25-0482-4fbe-88e8-32da9f97f25b CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8327a97-fe39-47fb-8976-4dbd7b9bd33f CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb91a9c-ea29-4bbf-91a3-11a3d1e81f9e CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04f7f7f0-1d94-4598-b0db-4d6846dd28a1 CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2f1e54-4dd2-4818-88b0-929ce98cb5fa CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02d707ab-fc01-47ca-8b94-7ca0e94f0b22 CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071593c7-27be-4808-b070-548060507d86 CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a940251-ead2-4559-b26a-6b2026dccf04 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dc2dde-3839-4510-83aa-14cfd367da67 CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1ab821e-fdad-443b-b434-83ac92e506ed CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21aac86a-406d-42c3-8326-74fe78542b35 CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 506050b0-565c-4771-9dc5-4b2886734abd CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7869fe5-4ade-4ebb-9564-e096aca96fe0 CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36016b59-6e1a-4dfc-86f6-a5b785abbbee CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1970bda5-cf42-4b84-a77d-8054752dee56 CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb3a06ef-4ccd-4dc5-9d30-0199472dcc02 CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a9f980-2aeb-4f77-8fa6-5cb55b7bd047 CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b139658f-27b9-4cae-a81e-5fa2904919ac CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86738d60-0a18-49f3-a681-6cd5c4fd6de1 CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0918e98-5d0a-456b-93d9-327e51dd99cd CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27ee091-1408-43c6-932a-c831341b1231 CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcdfdbb1-f716-4307-8809-379cd3a93b09 CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f859ff7-f9b2-427a-af86-45d7dfa6258c CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen add468a0-b199-42a9-9c93-dc1c40b4afab CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e17d530-7dd8-4efe-a310-4cfdbf3b7141 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03b7011e-12f8-49ed-b48f-3f5b3dd2e685 CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee996ab-b8de-4889-8a40-9efbefa3c10c CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1e1b179-49ef-40c0-ba00-648808d9783d CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afbd05b-be5e-467a-9aae-1d9faee3ace2 CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b0003ad-485f-40e6-8f7e-0a13e454d929 CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a93570f-f08a-46ce-9dd2-5cda967bdf0f CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c91bdaf-4cd1-4e49-bf2c-28978e2a0b78 CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0586f1be-0ceb-400d-a723-8d0c26300033 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3eff0ec-3ecf-45a4-9e20-08c46573634e CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d138171f-9553-4d2a-a6f9-029ce17b7bcd CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3a3c590-5854-42a9-82bb-5afc749e293a CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6edf21-0ddc-4a4e-bae2-65436cebd390 CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7f80219-053a-4f99-af0c-d4c18af8f339 CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f72602-1150-4eca-8bb2-f58dfa6c245f CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1377b047-33c6-40dd-81dd-225e59d7d133 CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785a449d-d202-46e7-807f-35b947c70416 CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2353d10-eeab-4d78-abc4-d6135e2174e0 CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65f40d3-2a16-43c0-b322-7fb44b64f795 CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66a3e561-1075-4f73-93bf-58fede8c5c11 CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e2d454-f24c-4f7a-bc3b-1457180c429a CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a532e374-b43b-4e49-a819-b9c13a667072 CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de270839-ac96-4a0e-b72d-4e795078e5f0 CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e0c637f-38a3-481b-b7aa-bd92ee411271 CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4697b5-67b7-4668-9871-440d62abf51e CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2430e862-f13c-4e67-af69-84eea22aa7f7 CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64df972-5515-4649-a887-f8ee44ba9528 CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2766876-f20d-4cf5-a6eb-3e4f4fcc503b CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c85f57-7908-40f8-a8a9-3f963d133c2e CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c28bd66a-6a1c-4898-b3c4-fb2634918da5 CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f397d8a2-e2e0-4b44-8932-986af7f42a8b CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3e35ad1-c455-4a30-b1d1-9af3012d5f02 CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad410367-c3c8-4b90-b258-d56361fa57ab CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cbaea17-0eeb-4f1c-b1bc-b4a829b18084 CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bcc259-fed7-4a84-b813-21eec391a2fd CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eb7885b-487c-4e41-b4a2-ee9c8fc3b354 CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea940f4-b676-4563-b8ed-d26b718690a2 CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3582b2f5-92ae-4d75-951f-19dad8affdc1 CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a7c767-5d68-45a5-86df-caf578ebba39 CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 720aaca5-00ec-48ab-8cf0-d469288dda15 CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de610d0a-c73b-49c2-b751-38184e801e22 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11a06de2-1471-4b0e-85d2-c9ee415b2b16 CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83060e29-7f88-4350-9aaf-e2632c64a416 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be57432f-a6ff-4ff6-9d9c-85e628728027 CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2e51ff-438d-4db5-9845-19785139862b CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd89c521-5e88-4dd2-aa87-d2a4897c2f49 CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb13cc24-2ac2-40ea-9994-764f3486aa34 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a70f9ac-0ca5-46ac-8a61-b9ebb233b44b CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ac91f3-075d-4acf-a695-bf196f6b08ba CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2e8551b-81ca-4bf5-925a-f7095f9bb8db CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c2e204-9051-4770-bb35-8d4d909ba287 CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dde9c453-a3a8-4b86-a735-cf9c4bd528fd CLINVAR:553173 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70269f60-256a-4d52-b455-c4705d6d804d CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b86f379d-9ac4-4d8e-9c7a-323a0e8818ab CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bef26c-42e3-4ecb-8ec2-7b69579cf0ac CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d096c387-3c8b-4f4e-aad7-4308040d922e CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cb4db3-948d-4b71-a0b0-8c85564dc355 CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7da2db17-721c-4b51-9580-c52cd22d9f5d CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720240a4-b82f-49b1-ad1a-560f4f927c85 CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97d879b8-15cc-46f1-a12d-ebdaf8e58e47 CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8e89d7-9449-4d0c-a401-22600b02657f CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93d9bae0-d7c5-4018-9f0e-c31991e2b214 CLINVAR:1942331 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cf41c8-ed0d-46bb-998b-43689d225093 CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb9c5f6a-6939-48ca-8e5f-246bdff1f235 CLINVAR:1047359 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f42a2c-cb78-45dc-bf13-d0771d6a940e CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e30a6fb-7295-4ffb-a39c-01eb8ab2abe9 CLINVAR:552081 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d94196-6c4c-4659-8db7-90b5f084c140 CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b957ba92-dd6f-4748-9acb-57e5d725925e CLINVAR:970368 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e741d20-8b05-4c3f-a031-c693d74f85e5 CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05ef459d-e5e7-417e-ac36-748dafcdfec1 CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37917944-d06a-4223-82ab-743c04b7d335 CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 975718bb-13b5-4ecb-bb4f-d7507690b668 CLINVAR:556949 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ca8bea-09c9-442e-a165-43fb54d53c2e CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e7e669f-dfc9-4d95-83cd-b924a295aa7a CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23fb0a3-dfe8-4866-91e8-6e9258a48d21 CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 038a2ca9-35a3-40be-9d44-a768486652ee CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449be4cc-9f81-4c77-b5f1-c1a4de6b2803 CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b1d36f8-da4e-4643-be88-d3ac176e672b CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474216bb-6b8e-4d1b-9ae0-05d7429454a7 CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa1b5897-185d-4a5c-840b-42daf1d8b530 CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb51925-fd0d-4e8d-bb8e-3329a207b2e0 CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7251f456-aad9-4626-abfa-d81d22dcfd7d CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32f6cd1-1625-4e28-9ac8-94d976abf973 CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d002464-4383-41e7-aabd-b9166326a52d CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e25056-5d4f-4253-ad85-7f7d24682c61 CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af8b7285-beee-403e-8312-80449559cb75 CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002c543a-e412-4135-9701-a691016099c5 CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b5d0f70-7093-4088-872a-fe8f4ad4ddec CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bf05f6-f90d-47c3-add1-bf40e6059f4a CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6016b5cf-45b9-40f2-a279-f33a8276f0e5 CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 748b1a58-7f0c-4515-a533-dda0df13eece CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b990023-5377-4ac5-a39a-60cab57cbc1a CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1da804-d302-4c63-b831-c0893ee1f798 CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae11e7f4-503d-40ea-b7f7-4c1e3565e37b CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd5edfa-ecd9-43d0-bbea-dec7ac5be19b CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a58d8d8c-99c4-4f29-a10f-b964032c994e CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3841b6b1-1cae-4001-90e4-7f7121328e1a CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bd2a40b-b3d2-48eb-8ee4-88e8c9d1ee1e CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adfee04-41ec-4db0-94a1-efe9620388e2 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccb28e1f-1ebe-42b9-8c0f-9553cd903cc3 CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da06653-94ee-4b73-ac34-7b25478021c2 CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de24c5be-a22b-48c1-a1fc-7f59a9ba2944 CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3a3828-34e8-4538-a8fa-177a17c852b1 CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ba4c396-0339-4f4a-9000-8f4a158b7465 CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247c1040-8ac8-4b2b-b162-587a2ec71133 CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21b8170e-9d60-4258-8865-dc174df0e878 CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b9f55c-c930-47ab-bd2f-4a9b19ad4511 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e52d074f-b9f9-4267-9536-ba6c1c8dd13c CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d69630a-9d25-4361-b683-be67be972d5f CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7d58db5-3cf4-4798-83b7-16656e965063 CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bead9e69-b927-43e7-9c92-dc1dd5141f4f CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd3c1707-c757-42f5-8ccc-ee4bc26334a6 CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4bd8c9-294f-4d67-b4e1-d3c6e986eb2e CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c95fc76a-cb37-4bee-b1bd-5499def49a72 CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77eb42d-5e36-4eb3-b3f3-49ce18d45014 CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b61d17e5-ef22-417e-b857-847e37c49fe4 CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a682a8-b5a2-429a-92d2-afb630a1fb67 CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a93e390c-880d-4be1-addd-d13942f3adac CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83d8ab7-ee30-4d38-a5f2-85b01bf8f7cc CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b714bd9-a3f3-40b0-b7a8-a06406a2e7bb CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57e0c17-426b-4cca-8f89-ee35479dcba0 CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 263ef87c-a0f8-4068-9998-1e8e005ba262 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413c8e96-1387-4bfe-8087-bdf5075926de CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9f4bcc0-adf0-48ae-b492-0176a16ef6e0 CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d725f4b6-d827-4fa1-b725-9e4dca8583d1 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b2b43d4-27ab-4516-ac57-f5005e0af9d6 CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8fb028-1afa-44bd-879f-c17b6c9a8bde CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cf4b8d4-5423-4e51-9ec3-fd578deb2964 CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e82388-2e08-4b4d-a333-c121141eb22a CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae59e8f4-3835-4f0d-89e1-be98ac6627cf CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92282516-f6a5-47b4-b934-77acd86dd5a9 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a55bce4c-d41a-4761-bef6-5e510524de77 CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c17959c-c149-49f0-a487-060ef0e92e0d CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1709cbe-4a0e-4e00-9a43-900746272334 CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b89cb13-6474-483c-8bc7-b4ebc07c9c59 CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37529d3d-5cae-4ed7-a512-a80001fcce83 CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78671b4c-5477-42e2-940a-7cb45f7d59d4 CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf65e671-4da2-45f0-95f3-b66b9e1512a6 CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0c771d-9882-4777-8564-7c2c29ca72dd CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8bc0315-9608-4046-87b2-9e8563bfe94f CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ab3f29-126f-41a6-b1da-fdaff46900bd CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40039f23-5119-4687-9473-9500e74e64e8 CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da90ec62-031d-4b47-bca9-ef2e1f2e1b4d CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06a2c43c-820c-4192-814a-ba6c610e6e28 CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc481813-adfa-4fcb-97e9-b6d7982f29c0 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7f0a7d5-77a0-47a4-b3b2-27cb684e8a52 CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b949836f-7852-4729-b031-8d67a9c01a20 CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c3a110d-72bf-4ab2-88f2-32eaf7f98d49 CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d87536-6309-4d8b-a030-c99105c2ec05 CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50d43f07-0e71-4d63-ae14-c282a1c06a48 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1512f2b3-e96d-4f92-9a29-b702c0018b1b CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cbb60a3-0682-4a7f-af1d-8facf33ae56e CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0081bf-3a99-4bb8-9592-f6606daca21b CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38db0eb4-9b45-4e8c-a12d-5e8fcc831338 CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4d0458-7b9a-4834-ab53-af5f7d17ac97 CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e77ee16-79f7-45ba-bc71-d3560f73b119 CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96efe537-e57d-4419-ac0b-4c5feb513a42 CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25582259-a58a-4e8a-9da4-62268ccce663 CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b67417-656d-4b72-8dd1-d12112ff9c68 CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2502fbbf-513f-4f37-809c-0cb7b092f353 CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3a5256-51cb-4ecd-ba8e-d65d723e4f31 CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a2e864e-492b-413d-85c2-bc10eadc81fe CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4552273a-58e1-42c9-a9c7-58fc44a4d29b CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ec174a9-f3cc-4da6-af15-367cf84894a4 CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c24d0c-5333-4cba-8791-62047fa47eb3 CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 240549f7-7a01-4452-ac67-b331e5a9a5a8 CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626cf471-91e0-434d-83c9-be3bd7c865f3 CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0df29bac-f5b8-4d74-a710-d0a6947543db CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58764dae-9da5-4fb4-af21-8a92d2136e3c CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3023712c-6a6f-4a3a-9219-ba9f5400eb59 CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb09f81-b3be-4682-8b01-9e59f0088399 CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6fde852-90af-44ab-83e6-c244e64c7148 CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c243ea-6c0a-4f04-a4b9-b5051ff0869b CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcf672eb-7d99-48c5-aa4c-9940f6ce9964 CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea33cef6-6c29-4ae1-aa16-ed32deeb5934 CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f342d20-984f-4542-8176-a238dec52583 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48938cc0-06ae-4943-b360-7f4dcdf4a110 CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05c63658-11af-4349-8bbc-7e8794121b3c CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba663cf9-92eb-4359-9a0f-9beda65af02c CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7d0ff5c-8507-4b66-bf74-e6920ef34b5a CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cb0ff6-57ab-43c7-baa9-bce382002e39 CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f818331c-453b-408f-878c-a70c7902cb65 CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce12d27-723b-44d1-9925-77c5cb32a5ca CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b30215ca-4a90-4b04-9875-e60f6c1d4145 CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67376313-3288-4e05-ac39-bc72ec07bc16 CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f1a1741-b518-4fb8-bcb2-2e79b8cd5148 CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f097f248-23f6-4bf6-ba29-313c59fe18e6 CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20f52c5e-453b-41f6-b4c2-2f0f7c166e88 CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afab115b-e5a7-4d19-a367-0e87817ef3e3 CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3e6da95-7c27-4c59-a79a-ffba740712d5 CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d235ff2-78e1-4d62-8c5e-cb4e4b3e2d0d CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01aee388-2c81-4bc3-a4fc-10cd50555b37 CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb4e2c9-2c18-4521-a9e6-bdbff5498084 CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e842ce25-0465-42f1-8f88-c946e5886a31 CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4a2ad2-63ea-4e54-bfe0-6dda4a63c056 CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c95b1ea4-bfe0-4fb9-b9e0-834a14757207 CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d719585-6e4e-4c0a-b299-a5ae57df6223 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a2ae7b4-768a-4af3-9012-217fd1e9b5dd CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47ea352-67e2-489b-acb8-7203c93daed6 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b3c1e71-3bb5-4065-8fba-d7155629cc97 CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f481659-7154-40fb-b867-9f88324c1518 CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a586f98-4b6b-4406-ab3a-28000f428852 CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9699c1c6-1c59-4e1f-b90b-67f0b2bb1624 CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14e524ee-19f1-4346-9e66-cb9c75132584 CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548b4c50-23fb-4f12-accb-a5fabd737d60 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ae67c40-3212-46e5-b61e-76dd73036702 CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c62612-0b4c-4837-aa3e-b50926be2c7a CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e61b873-0328-4b40-b150-eeaeed8c8575 CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8984e5e-bca9-4021-872f-e2069a6fa596 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c995559-92ce-4039-afb9-d8bfce58bc6a CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceed31e9-b8e4-482e-a52d-200a93f35bf4 CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7185c90b-0c90-416e-a6e4-d884d21d5f18 CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d131c882-d9c0-4069-9b02-326ccd02377c CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78ec865f-ce86-490b-a3b1-5d272e961a35 CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f0da6c-64b6-4fd5-bd2a-2ce736356c03 CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d510152-f325-4bdc-b051-88c50fc0043a CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8143ec-2425-46d2-ba0a-435ef607205d CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b843467-f48a-441b-b5e3-044bcceb3548 CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97543a67-50ff-4edd-ab2b-c94d14176e8f CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0aa8541f-313f-4b88-836e-77ebfceaf900 CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61ef4fc-f60b-4e2c-8268-9e449ff41638 CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7cf6bda-08d1-4b02-86c1-dd4b1705e1c6 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f31545-1639-470f-bb6d-ec6422c063b1 CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 840abbba-4e5c-4994-8873-898c51a57a63 CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8bbe03-22d9-450e-a81a-a38fb1978af9 CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be66873b-af60-4bd6-b6d6-de346e244599 CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51baf27-f476-4bf1-984b-e34d6e4d2289 CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c677b233-a5b9-46ea-8753-912acddf5d76 CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f4e3f9-9aee-4286-b3b0-c6f3f33c7d7e CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1a204e5-c0a5-4e1c-9d9a-3685f798565a CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ce4906-4d33-423d-a04e-cd7184d7ccc7 CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5309e7ad-9a7e-4713-b068-4921d5cd5832 CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999ca192-d484-493d-87f6-22245223461e CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b22aefbf-e462-4d3e-9dff-984cdc6953bb CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0954340-1980-4780-8146-f948aeadf96c CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d20edf7d-297f-4b8b-b06c-c8adc85a63a2 CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0582e587-c145-4cb0-b3e7-6f51cb3dc736 CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26c6200e-1b21-44a6-a39e-b9fde8edfbb5 CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2b587a-c163-4376-8297-4524862d765c CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0c7267d-d8d9-468a-8f0d-97c33707575b CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f3070b-2a4b-43d8-b7aa-6b4a09f08976 CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7af7c42-b57b-4edb-a5c1-76adc4482934 CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9e47ee-ea28-45bd-977d-0851921ce924 CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b723bfd-2503-4ea4-8498-7c521667b94a CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a42b974f-ae76-4aec-9c4b-8320f100f5ac CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fd02a45-fed9-4f0d-8539-ffebd2a506b8 CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9061aa12-5d2f-4dd9-af94-ce37e0135e07 CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5211df89-71cf-4b04-ace9-ea8360fe0724 CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b33b5f-4001-471c-8202-2b752aa4c523 CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fec50fd-e0ed-4608-9930-92f369290574 CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ee4aa4-e364-48fa-bb09-900b7e141045 CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c21b7f3-a2d2-404c-914d-2e5840912bc0 CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020d2d7d-a19e-43c9-a3aa-9d510d195e87 CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b793ee3-b609-4630-a2c1-cdcc75774b78 CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d5c4ff-6430-4002-acc0-fb47ed3580f7 CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f116871-1449-4310-b537-d35ffc6d246d CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ab49c8-ddfb-4903-b96d-2ffd45e881b6 CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f80df4ae-5565-4561-bbf0-08505df3b8b1 CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0bf752-3578-49dc-9d1c-9d9885a3f60d CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8223a26-8ebc-48dd-9fbb-1f51a7b2e116 CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53c4e44-cce7-4943-af4a-f0c36c7f6fdc CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0102b145-c24e-481c-9cef-d2b23ea415e7 CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0c4c61-801a-4341-af07-af04367eb380 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d29f79eb-6b4e-48db-bada-325f8e438a75 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8a990f-16a5-4bbe-8e23-a71543b54f32 CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b234082-433e-4eb0-8e51-eccb2dd651cf CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a050adc5-f108-4d0a-9933-31b28622f76b CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d239b31-7d9b-416d-b7b9-f27dcfc41b2b CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef12aa7-dc86-4722-b20f-f82321f647bc CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 288b91a9-5ad9-4577-b44b-eab812ae509f CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88027140-2099-4d65-ada5-632d03da8a8a CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 869c272b-343f-4465-9990-41cc85e2f70e CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0f1529-d4cf-4c67-9cde-15d99d6e024d CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbde535a-dc23-4d38-a68e-f86a29f2d3fb CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd641027-055d-4b84-b941-d613ad917830 CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c635bab4-2fbd-4f26-b046-42cfea006a8e CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909dc4fc-e27e-4137-9aa3-f8daf3d61122 CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cf22ea1-c1b8-4000-8cb0-2f05f888bb89 CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8613d84-8849-488e-835f-c1c97aefbea8 CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4471413b-0cab-4ffb-a05b-e5b5603e5ee6 CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19cff1bf-67ea-4e87-8b47-76d5d4a15a6b CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9181a4bd-c30f-4ecc-b569-041be82d6c6f CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca3f785-bf74-4a12-a86b-9421ebb95832 CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b96dba2-b7f9-4cdf-8b02-c5c720b4858d CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c05c1c-96bb-493f-a86a-6137ba6b8979 CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6955e624-a413-40ec-a284-ec17c038a9dc CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9415269-2827-4446-9080-8d1271defae2 CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efd207d7-3b8b-4195-b30e-dcf7692b0143 CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e05587-53d4-4676-b711-3d104b58a2b4 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 681aad45-c629-4aa0-9335-b0c84a3dfa35 CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c436a5-3264-4f83-82ca-775c05efdcc0 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b72d819b-3796-4a42-9652-40c039964a0a CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97de908e-33ae-4167-bf25-097736896a7a CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae13cb24-527b-4288-a150-1032d6a78b11 CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62029937-17bc-4722-abad-01ef0d3ed30d CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91114c84-46b3-4047-9a07-116541d366ae CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8446e08-d9aa-4d96-873c-3adfcb66f4f7 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3635a2f-38b5-4eca-a3a2-f52591cc06a0 CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee5965f-7af8-46d6-b2ea-0cbf9d418847 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91aaa4c5-175d-449b-bfc4-865c92216804 CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f202f0-e8b0-41d2-941c-a56dc9c26342 CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59adb5a1-4f8e-411b-81c7-77dee4d3b99b CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f289a4f0-a522-4cc8-9830-8fa79d980f27 CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40015025-de04-45b9-b378-1fe8d59c0e09 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb974b3-312b-4ede-b862-6a89e2befd44 CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab0f7fac-cf79-4a05-a851-6671d29f337a CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2cd9cc-d754-43fc-a75d-116987c6a59c CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a109f8f-2893-44bb-8586-d674e8180df4 CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e58270-713a-4e84-8cdf-9d9bad4032a4 CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 606e5041-2300-4a44-8d3a-eb15c4bd3007 CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94f06fd-1529-4235-9fd8-24325d47e72e CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5691c01c-7975-4da7-a9ab-cf57f8303bd2 CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab059aae-41f1-4d1f-94fd-07712f38098e CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac974b80-ccd6-4bda-89a1-0731fd1bfd7d CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a3ad5b-c9e0-4c4c-b83b-a89991ee932e CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eff81acd-754c-4580-bcc6-59216555e762 CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd810f75-b967-4540-9f66-6988ec485abf CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8951196d-0ddd-4eb3-b464-b31bc54df8fa CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d2bee9-9822-4469-a85b-6fd72d37589d CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d69a6c-f930-49ee-bab4-31d3c94a3521 CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1533357-8a8c-43d9-a594-8035abb8c16f CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3121637d-2d0e-49f2-be43-777a0fe7ca69 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5631892d-5a1f-433f-8800-a58fd49973c9 CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 806e72e3-98db-44e6-adbc-9c66b11d37e7 CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff0fa29-278c-4076-b763-7b2fa5379230 CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe9ded3e-3c75-4caa-b1f3-b2a1852e07e9 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988d3fb4-4ff8-484e-9af3-3bc157cbd142 CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 137ab536-15f5-47f8-a9cb-061fea081fe1 CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d7df27-71a2-4fcf-bef9-926d3f46ae8c CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 040e925e-43f7-49b6-9403-fbcfd5a6b720 CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cfe5d3-5140-42a1-92f9-e75f5459a96e CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7af01b1-8133-48a1-984e-15bf59556e18 CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2423001f-3dc6-4e09-809c-99db9c09e5b4 CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f74edd54-878b-48c0-b887-e2878ed825b0 CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480b05d5-1935-4e60-9dcd-69f165cc55df CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb7025dd-2f83-40bd-8621-51fc58919fa4 CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3361dae6-853a-40fa-8c0a-2d3c8a3065a8 CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 270158e0-79aa-4963-b0ee-686472dce5bf CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a866a097-b425-465f-bb32-fd00b051fec7 CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3090e75-1997-4e22-864a-adfd026d1838 CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf87911-58cc-470a-bbfe-c5dfcf03ba27 CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5f03a92-136d-4341-9e14-5f3ed8b82ac6 CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3306641-bb8a-4585-991a-d1559da6ade5 CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69eb1b82-a0bf-4129-8109-d3450dd45616 CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfddc2b6-584e-471a-8dd1-3f01890c854d CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a90c6ca-f380-4251-a4dd-efdd33b035cc CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff1f483-4106-45ce-b086-7fddc6b33ac3 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b905af7-7aa8-4dfd-adb9-e28031eab43b CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10935672-2159-4398-8431-29c919b3ca9f CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd30e5b3-10a1-44b9-bccf-bbbc02c17a90 CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d76c5d6-45d4-42d1-b4c4-f5b12a152526 CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2b91664-c4fe-405f-97a4-194dcdff92ae CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f435cb-201e-44eb-bc2c-f757bf58f7e7 CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23bbf038-722c-487c-bc89-ae4b2f944643 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae8324f-424b-4aed-9b58-c25646e2f637 CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c99ff92b-fbd3-4e98-9dda-109d8631abbd CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ecce31c-cdd4-46bd-8bc2-38f207d8d406 CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aff42f3b-e409-4cb0-8f04-b2f9651315c7 CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dead7260-1577-4289-8fe4-3bafb2f294e6 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd66e101-51a0-472e-a749-230cd05022d3 CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bdc060b-2f8e-4c70-837e-bcca44da6e82 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b692cd11-10e8-4946-aea2-6b6d22556cda CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf98367e-b8bc-46a6-97f0-70be40cff5b7 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77c2bdca-7207-4ea8-af13-6222e3b722a2 CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d5d202-b85b-4981-b6dc-10ac937ffda6 CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df29dcbb-a3e1-4727-9732-b7a9142eb881 CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302cbeca-b832-42ad-ac64-6ed03c14cc6f CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 131768e5-375a-4da3-aa4b-7e730a390bc6 CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8a5887-0719-4f34-b1e3-dcb4d20312f1 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 563e91a5-6dfb-4fd7-9c18-6f4b7c0806e4 CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87bc3a35-07a0-47ef-971b-73eb15e60a35 CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96391ab3-3339-4e98-914b-c2bfebcfb3f8 CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3696777-2eec-41e9-8a38-57b8437e5ca7 CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cc04549-5643-4b01-8443-2af88d946415 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b54e491-79c6-4e63-aa04-6c7d4ff1a1a8 CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 774f6d01-36af-4638-8ac6-0e10d51f6d9f CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e9c1b0-0dfb-4df7-b3cb-468187361faf CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 386483a1-5f9f-402a-ae8c-d54acdaa4340 CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447d643a-154e-4625-bc9b-32f912344249 CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be0d6659-230d-4224-8b91-65ba3ca7e8d4 CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ebb90e-6aa6-4c1a-ac70-3501259b2c48 CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5699f5f1-06a7-4e3d-b04d-e08cb2884d41 CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d06af2-d8b6-4ee9-a997-f07f0471f9d9 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38428850-410a-48bd-b964-68ddb7b1bfb0 CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4e7c1f-49ff-42d9-bcb2-32379fc2ff62 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88af374b-4291-44f8-a40b-e6ee3a305bd8 CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c18691-156c-4be3-92c4-ea8bda876f32 CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dc09525-2bab-4a9b-8aa9-d63c7a614ec7 CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67764e1-f1f9-4a8b-bdfc-fce620951018 CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bd05c44-6fa6-4cd4-8cf9-20409f9122e3 CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcff24fa-17ba-4232-a0e0-cdc425660efb CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59e08e74-b8b9-443f-ba5e-78ef93b7635b CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d1ee57e-df57-44de-8664-80bf537142a8 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4504ce9c-cc0c-4896-8b30-f1c68a4657d8 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f51899f-81ae-4118-b9e7-5d1b2fbf120d CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 512fa609-85b3-4bb8-8cbc-7a2e1b606784 CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6e201e-5102-4e72-a91a-dfa86c3b695a CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37ff494f-3cce-44e2-88e0-00789ae7261d CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d7f4cb-b115-497e-9404-a49ab2c38067 CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50a1d327-ef81-49a7-b2ea-fc5f90189c4d CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260d4132-b54c-4076-a43f-6de2d4c10741 CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c0c31eb-9259-4543-8a89-a33899c3391d CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3748c14-1b58-49f6-8571-3a65ed133b5e CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b234712-ee9c-433e-b6d6-3a9bfbcefc4c CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0790390-3d58-40f5-8120-52c334fe48df CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda713f0-cc9b-4e0c-90fd-882263dcec47 CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bd630d-0286-49b5-a91d-dc43d4d4ae72 CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecd95f82-ef62-466e-9755-c8933be949f3 CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15e4ec5-d583-41de-89da-3c69e31c8e47 CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af0caac0-3bdf-484d-b354-7b5169109598 CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f55366-a9a2-44c9-8b4e-900c19946b11 CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 530a6b65-34e4-420c-8bfa-1b503a4c0738 CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adb2b2d-9c33-476d-9a2f-c8ba90794216 CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b000a88f-b985-4950-82ac-38a38e23a43b CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce53722-f750-45fd-a52f-38011274ea58 CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 279730e5-8e40-48c8-9280-093834e268e1 CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c777281-b3cd-4dd2-b6b4-7902377dfbcf CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ee9be40-9e76-4896-b4f6-6eab44d91799 CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e07d774-825b-4e1d-a94d-fba328bc91e7 CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41d05833-919b-4b06-99fc-5ae3b76b99ec CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31df61d7-28cf-4064-b9a7-79763e09be30 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace4039c-b576-4e33-b4bd-bff3c1112f6e CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b48740f-7ea4-47fe-b3b8-ee9547d6b16e CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bcb8b8c-8a96-42ef-aee4-bd161f38b965 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a3e4c1-bdf5-482a-abaf-7a17e82c83d2 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18b0ca63-f63a-41cd-a922-69ee6099878b CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee671d83-6747-4a29-b341-af19ef031a96 CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2a27146-68f3-43a8-acd2-51afd21c8d07 CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc8432a-640a-417a-8293-51dfbe0ee994 CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 227cb183-63c2-43c8-ab33-1b8c907405b5 CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb418b6-c5c9-4b46-92b7-b67a4722b0f7 CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0486fa8c-12c6-4113-b51d-ce987df8a1ab CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6285583f-cb29-4252-8f1a-1973ee3c778d CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d57b394-d3e6-4727-a847-10b4a21eb67a CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0532ee-bf54-430f-ba15-e2218ebca995 CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 845b8312-d2b5-4d69-bff2-634493f92ad3 CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3acd85cd-4677-435d-8216-b07cdb861a15 CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9541dd9-8cca-4987-87f4-adfa6a1ee706 CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b09bb4d-14f3-4131-a1b5-2338536711e1 CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b6cbec8-c294-4ab8-8f7e-99681335a133 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba30e99a-c153-4801-a03a-4fd6e8a15220 CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec915d82-0061-440f-bee7-b8ec7772b1b4 CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 006d5b25-03eb-45f1-a6d7-08e1b8e884f3 CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebc00885-fb27-4c62-b729-d7cfc4e90b53 CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982d357a-a9a5-448d-be1c-9bc35482c1f5 CLINVAR:3791513 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7621770b-a91c-42ca-ad2d-a200b8edd606 CLINVAR:3791513 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad90d8e0-dbe2-4e17-a930-1a170dd626a6 CLINVAR:3791481 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 831263a4-10b4-4738-b248-1b7e25061499 CLINVAR:3791481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5045648-216f-409d-be98-18081a18fd6f CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b733bb14-6fe5-4bce-b523-5824aa45879d CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3609c4-6ec3-4d82-a5b4-834ddaee5068 CLINVAR:3791509 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8321156-91d0-44f4-9721-2eb7dc5ec2d8 CLINVAR:3791509 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb24d5a-71d7-47ed-be74-0a8a234bae95 CLINVAR:3791497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 362ab8a3-44e5-4eda-b0c5-d69feac8922c CLINVAR:3791497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316a56a5-f16f-4d60-8cb8-299c24066ab0 CLINVAR:3791495 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f74c501-132f-4593-aedb-09c545c62204 CLINVAR:3791495 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d46a2fb-555c-49bb-9316-9b50578b88af CLINVAR:3791475 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57ccee76-dff3-4279-9ee2-da267ad41e15 CLINVAR:3791475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6183b3-86cd-4f26-8338-48cb61d6c251 CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e07bf4e-2b3f-43e0-a94b-a3716432bdef CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217e7b6c-16f9-48b9-b368-0b1f0f6f77a8 CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36fa39a4-9a4c-496e-aa04-f1667462e3c3 CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51eef78-2218-4a66-8063-55cc93fdce05 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 885a46fe-83d5-4f19-9ec8-15e2058de8dc CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0029732a-7de6-478f-880f-d16fa2220488 CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce707dfe-5e48-4061-b76a-ac1410d0e1bf CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220feead-7416-4154-9caa-9b0614994fe1 CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84f76e53-9dda-40e3-9b2c-226fb3897861 CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17547d5b-5a94-4251-b2d5-83b79b2d5b42 CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f099806-b7b0-475a-971f-54bb88b2f176 CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a2a73f-e6d2-4f9f-a7de-875ff1264465 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 815a4c6e-c68e-42b2-8e16-8569ec81e661 CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052920cb-0fb8-4836-b1e5-118bb4bce431 CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f27e851f-d4ae-4505-9781-b221affd39d5 CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7232c432-c797-43ad-8f1b-6da59555063c CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3b445a5-e8cb-4cf5-8740-3133454533cd CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de40bf5-fa43-45a8-b7f3-137f1e9e3c1f CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e18e1d6d-bcfa-409d-9a5e-a296ec2f96c2 CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b52a75e-2cda-4b91-97de-47472cd45fb0 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f783c49-9a45-431c-867b-634e663ebb83 CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b06e41-7c95-41c0-b1f6-247aca4d3e94 CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7572bd24-84f9-4889-a8d6-ef7f8c675ab8 CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e4a640-5d18-42c4-a9f7-ec25d250cf6e CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c41be5a2-eb1f-4acc-a4b8-9cb8533f6e11 CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2831ebbe-32b8-486e-b136-d715a5e2d2dd CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cdaab6e-d714-4884-9b66-52c46cccf5fc CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de44580b-be18-4768-9b49-26f4038bc661 CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2be57adb-da96-4632-a643-0264236bc9bd CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbf66de-9add-4201-aa36-1016937e411b CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87b0c4d1-1369-4d85-b921-c4f7a62f7f62 CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf190131-eedf-4d3b-98be-64b826af828e CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d733235-a909-46bd-846d-3b4cfe55471c CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b437df6-52a2-45dd-9dc5-95f91592e8fd CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a4df742-2318-4b1e-8586-0ce6ab184dd1 CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1cb71f-043a-414c-92e4-649dd8f88747 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 947a6da4-bd3a-4cde-8abc-073a179c678b CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d73b09c-2eae-4d7a-b867-ab639e1b8f91 CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5000316c-f3d4-42fd-969f-591b02ba9aa3 CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a5856b-dcbc-4207-abbb-749291173357 CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6afbac0-2613-4ebe-aa91-4d68ab697f3a CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5023fd6c-bd56-412e-a83f-1fc82c475386 CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa2ad421-feae-41db-91c2-def4a3c5509e CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94ea605-fb0b-4ed3-8fe4-9b449d6db360 CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f2b44f6-ea1a-4a09-9d8e-4d2132d4be82 CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5375c66a-f6dc-4799-afc5-71501e4bcfbb CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c7822a1-3cdc-43e8-bfbd-3cbb5fe14fd6 CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df0204b-d652-4c08-b03e-814be10f4f1e CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14b50718-c42c-4fa3-a591-0c2674d34a16 CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f5d407-f40c-41c4-8905-16ccf1b3278c CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc414f4a-d8e9-48b6-b4bd-7279c07f06a9 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c46486e-6d42-4acb-983f-aedaa473443a CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7920e3e4-e935-4018-b860-28922ce9f6e6 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a205ab-7c05-4dc2-a4a0-90c9343ac625 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5d0c44b-04ca-4c4f-a663-4012a5431b65 CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e9bbed-0860-46a3-aead-e83fe404328d CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2a5c85f-ed4f-4516-82bd-57db39f88f15 CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70309e51-2504-4356-b95f-6f408538aee4 CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7562dfcc-86d8-4359-aeef-0b6a2e90951c CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d195c28-31a7-42aa-b472-2eb044f9b06b CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6885bf4-7d73-4fe2-a54a-160e99d46bd3 CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae0a69f-adf6-47c4-9a8a-1a29ebb2a391 CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eb1d482-c1cd-4b24-b183-e186b344c66f CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52c289e-4b13-4c47-9686-4dad7a3027ac CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca82fdfb-3f36-4bf1-9529-9497acc66df2 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22f4fd0-5104-498a-870d-5e1301abe13b CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eca8ccbf-c999-4628-823a-aa8c0e19a27c CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247e6e2c-c5fb-42b1-a3ec-852501bdd420 CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99e1d245-17d6-41bf-b678-5a4f88f5cbdc CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630b13c7-952b-45e4-9391-81e81e812769 CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen babc3456-7b8e-4071-9216-d2bbb19bb102 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed4fe02-98f4-4844-9070-ce184a79e2f5 CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e05d0a6-808a-4402-9e36-4b5f235cf764 CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3fc769-d5c1-4be8-8050-028356bdf524 CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f125de4c-c42a-44bb-804f-962b085cc772 CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf06228-25ea-4f15-8817-c951f6c37262 CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 851451b7-2902-4986-8aeb-cab0b02de3d6 CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a61e872-3e3c-40f8-83d0-21df5a10eee3 CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8324e44-1ee4-4a2e-aa31-028d2c864cb4 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab0304c-0207-4530-b0a3-742d28e0a6bf CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91cb68fe-3f15-4e1d-96be-cf230b9ce360 CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8e37c5-1898-4cc3-ac5e-c60ad09c8a2b CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d352903-e091-4a17-a88c-20af9440d0d1 CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f9d0bc-1a6d-42a6-bbae-ea7d27975cd3 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ac862b7-a373-48b6-82fb-04617b8645ae CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ff412d-4c4d-4952-8907-b75d111038fa CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ecc185e-f39c-45a3-885b-2a8f87cbeca2 CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15789992-7e8f-41a8-8e50-ce86edda615c CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d87f6240-f0ba-40dd-8051-07a38e94c4a2 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92f624c-5d08-461b-9b6c-0b41579fa5e6 CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fb5d074-aa46-493e-b792-4893cac9b276 CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21cb1c44-91d1-4ea4-bd65-3dd3eea1acef CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b608a93-c466-41f7-81d7-3385c6773e41 CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af87ffe0-6c8d-4508-8ead-f4837481bee1 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67c7ca5d-dc07-49de-a9d9-b3df2bb12878 CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b623c9-0666-4a52-b6bc-84e4c07b7eb2 CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9405058a-0f92-496b-b5bc-cc0d8244aeca CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45b3af5e-21dd-4f3a-a051-ded0f5bff9da CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad5c7717-b7e5-4773-9ef4-1e3c8fb28010 CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd9c4f5-46ad-47ee-99e1-2e1035dd6a3b CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff311d5-5d19-4d7a-b3f3-51f8c107f38c CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1df1550-4a18-49f5-8686-7ceffbdde0ef CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c555fac5-8688-4ed3-9919-6b8d529e9a9b CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9577ea-a102-4387-8196-bc65c5a6d071 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5e174d8-806d-4095-aab6-515cb2ddacde CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d9de4c-335b-4a9c-be1d-aab390de9da3 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d119409-000d-44bc-98e6-2a1873d0df7d CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51c4bed-f61d-4d2a-bc98-1c6fd268dafa CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d5588a9-660d-48d9-846f-5a69114d8dfd CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d04684-5fce-4530-8cb6-d5837b5007d7 CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70d2b779-a720-422d-8a6c-b1bf7f2bcfae CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e9ce92-9e53-465a-a9b8-ea2f16f961c7 CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 442f9f6c-0e92-4b6c-96b1-b5e810fa9af8 CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023c6645-bb4e-4dcd-bdac-1b069bd4b2c7 CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e505f1c3-6b24-4df6-bdbf-703095153b16 CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c84e53-383a-4a04-a670-dd5cc84ce48a CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36c14628-76ee-431f-af96-bbeacd3514d2 CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9bdbb5-96e5-4cc2-9b80-c241d7c70b6b CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5374c239-05cf-4852-a562-371d8d593485 CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0404dbd8-b105-4cd3-81bb-61167ff69f0e CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8839f0cf-7e48-4cbe-bc85-b1074a700e16 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b484b727-f28f-405e-928b-0e2c3922c1b2 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5018df27-69af-401b-8f61-383d79c91f7d CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22bec8a-28d2-46fa-95aa-885e9f98eb4b CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a9640d2-9b2d-494c-9380-e889ab5ab72c CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6035b011-e018-49e0-bb1a-0da0179f7357 CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69cb9640-6bc1-4c8d-a398-d09fa6cefb70 CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9394a279-7e37-436a-8f80-b4169272fdcf CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b931d2c-6691-4e9f-8d72-bc25edb40dec CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8a7df8-66bb-47be-8219-e575e8cc9676 CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99beca87-bdb5-48f3-8710-db9196483173 CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e9d0ee-2e4c-417b-88ef-6832b410ff7c CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 222b0a2f-4363-49a7-b8e7-365d53d0e12e CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7dac92-d4aa-449d-ba81-bde17d5aafbc CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eefc4f67-ea37-4e0d-90fb-2e85b3839a03 CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52eee81-2a8e-4b65-841d-f00dc4ec0ac0 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc01925d-1884-4dbc-a48b-6ffa0f4ebd00 CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9374549-2442-463b-992a-476de6e52da3 CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de1dc6b6-2b59-45c6-96ba-409054927de2 CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b1bda1-cfad-4341-958f-9b8217347f8f CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1247b9c8-6259-47c6-af15-00105c3f4bb1 CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1666637-9fd2-480d-882c-fc54fc43f29f CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b84d511f-e41a-401e-8b17-b5372dfca8e1 CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d1e9d-f78c-48fa-8f7c-96cada60c53c CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00c68330-5675-4142-9273-25dd5f6fdc76 CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a624b2b4-adac-4950-bf05-d4eb44e7cf8c CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1097254e-9c58-4599-9bcf-de18920b838e CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a680d34a-e64a-4d67-9f7c-6aea22d51202 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3e79419-9de1-4179-8cee-adb9e97f2fb8 CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48dc914-9f31-4f4c-bc7c-da1cabe79ede CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d75d9f2c-e182-407b-b28a-80610c66e4cb CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f17b1b-a6aa-4149-97ea-ecf3b0c6e53e CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 310de035-22c7-4bd7-ab00-4e2878aafc09 CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 065a3f5d-dd20-4e12-a78d-de05038ece9d CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18489d0a-5910-4800-805d-adb18e3905bc CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 988d4e34-df94-4382-882a-92a2c92cadf7 CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ac9ee55-9ce2-4be4-a0e8-5cec22b166f2 CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b786fbf8-d8e7-47ed-ac9b-a479cd19b1c7 CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ac3fd66-9dd2-495a-98fa-6455fe504c44 CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40760d18-35d1-400c-b1cd-a0fabd25af96 CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c049151-a016-4acc-8db5-8b80962617dd CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f6140e-489d-4976-b91e-3f962d3e796e CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75fcd458-7bb1-42a8-a600-5e1b7cb3d6a6 CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a975a9-b9b3-4382-a017-843c804df86a CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8b73da5-f062-42a5-b847-248f39fabba5 CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8209bbb4-e6b3-4ba0-8d96-7f656a5dd449 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5372bd19-6ea1-40a3-895e-3a6eda53f99d CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91f54d6-5499-4046-b4c0-c6447d566eda CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af7653f1-d301-4195-bfbb-90f4a2ff0110 CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51c3c32-2839-4117-9b40-d97eb7f4e785 CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39ce75f2-598a-41cb-961f-be9797ae415a CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afcab97-b267-4f1d-a442-695beddbf4c7 CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2441ea9d-d528-49d6-9c5f-f739d4300176 CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67243ba-6490-4a4e-acc0-8d537a55d99f CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5ddb01c-86ba-4a47-897e-950c05756d20 CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4719e8f-5e92-4f1c-93d4-145304ef2fb6 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2745396-c8f4-44b2-957e-f704c6e704a4 CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05867d89-1eb4-4c31-89e4-be33c5de9396 CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de537580-b0af-4f4b-ac96-acc480a34788 CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d1e61b-7476-469e-bb9b-ae2abdc3d134 CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9759b6e1-5d5f-4f8e-b19f-28dec25be714 CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6e11e6-b384-4b01-9f84-20392046e9ab CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64384947-f7a7-4fc8-8f90-cb0f806a0b0f CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5e042d-1672-4a14-a197-c4a36b077006 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12a8ee99-37cf-4f93-ae00-ef67f6ea252b CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d6b851-8a6b-45bc-b83b-3f81e07ddafe CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 721fad79-d1d8-4d25-b2d5-30636a95cac7 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ceb5d6-87ea-4554-a191-f3ae235e9e5e CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b197a79-0a15-4042-8076-ff1cfa4469b6 CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7e5725-9baa-405d-9d70-40c54364cfe0 CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a109d335-25e5-4a6a-a315-7980c54059ca CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52e8a23-6804-4b66-8479-8ee7dccbaa95 CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d730233c-2790-4975-be61-ac1c1891942d CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c39c51e-4ec8-4788-bdd5-4c1561e32616 CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ae00fb0-81b2-41fd-b642-d4fa47ea987e CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeaaeea-7eb1-4b13-a647-31b41d3a851d CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 225c9e25-410d-407a-b6e9-21bb2af3d308 CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f0b9c5-1055-4f14-9178-4e5e78bcc36b CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfeb5753-5b9e-4123-a873-b27bda3e2ccd CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d5f166-c074-49b8-bcd7-42950cae7dba CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6e4199d-5025-4520-9dc5-377a38f733c3 CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba9bb51-2acc-462b-9fcf-4343209dd874 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b604b400-9a2c-40ec-81e8-5df366bb42b8 CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4afd41c-550c-4176-90f5-a898daed1664 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59a31d84-3701-4838-8c20-9b7e7eae686f CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d30641-91fc-4713-833c-41b9b5d4f816 CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 729331ea-93dd-4e4d-9c4e-e51aacd013af CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5543ba8-fba4-44fa-9988-73004e4444d9 CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7931e139-257b-40aa-975e-f005a2c60eee CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af33c4-fb10-4e37-b339-998e884088e3 CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69b1c525-427c-4223-bdd3-e628d7c0e54c CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d86ae48-0c29-4f83-ab74-9cd65c20b801 CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34c159c3-a0b1-4640-a3ee-980392297333 CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f23f76b-d47a-45dd-aa5e-f063566510dd CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb7a6c1d-0698-4989-9795-3e0de5f43c9b CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6872fc81-9d59-4381-a85d-6e48988fa91b CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dada524b-21fb-4114-a0da-1457972b649a CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af8831b-9722-4f63-965c-b3808b724645 CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfd97ad1-0e34-4b52-968c-b80f559d176c CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55d17f9-d615-46e0-bb06-607121432819 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb7e7043-1a44-40ba-bbdd-ef6c8eb5c783 CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef764b60-2d99-4e0c-90c4-02f7cf4b1530 CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82fe5cab-62d7-40f2-9d56-f13632658850 CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728954c9-ef5d-47cf-80ac-c4151e60d284 CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70381c15-8acc-4d5e-8886-870d05a77ed0 CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d3e393-7fb7-4069-b472-74785d16274a CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5ccb9c8-bddc-4d02-a20b-ece25b76b67e CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d869753-ecd7-4dc2-b40c-6c2d2478772e CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b4f5e7b-089f-423d-95a8-d8e7b86b95e3 CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014afcfc-cf33-4036-897f-71b2aa458b7a CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e94413c-42f1-4dfb-9ace-f655bcb4b2f5 CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de904bc-6049-4822-ae14-ac782835af34 CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58878bb0-dfc8-4c83-af17-e874b5765453 CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43a7908-8d38-479b-83c0-3df80c0cd798 CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7398cedd-cbe0-4ebd-a165-2bcc2440f749 CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e435da3c-372c-49c0-ac64-5f8c55a161db CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db93f73f-eaad-44ab-9ed1-d84a1d795790 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf3c5d7-09c8-4018-a501-a1ef5a83defd CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87f05797-b36c-401d-8f1f-6032a9026cb8 CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6083500c-3198-423a-93a0-556c6cd3c22a CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 857a3c9c-9b6c-4255-ac6d-6182e8c2e0ab CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf6850e-78a6-4913-bb65-e97a8188d496 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6747e963-590e-4e7a-8720-cd572206ce58 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4d743a-a9d5-4f58-83bb-43cf123ed3ef CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 151d9efb-8454-408c-81e3-4d5e83c2d64a CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c169d805-9de8-452c-8227-2fc3c1148308 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b917f072-5dda-41de-b533-cefd4961ced3 CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d933fc93-efcf-4564-8818-1f9b332ef46e CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ad78d43-7ca5-4179-b3a4-f3e3ad8a7dce CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd3418b-e04e-49ba-9233-b6ed848614bd CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ea8384b-80d4-49e2-b5b6-017af232305d CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d31f24-317d-449a-a850-c41c1cef0265 CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35d270ca-174b-4cb9-a384-4dd5e0a2e713 CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c064e8b6-f8f5-4e66-856b-47e4138df097 CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbb92707-f9be-44f9-9e29-d093165ae996 CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16bd6cc5-b519-4c5f-b46f-ba394f01d5a1 CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d67011f3-b8e7-4a14-9d1d-97b8b3f96c7e CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f4ebb5-0ff4-47f5-a73c-6c4ea3a32c31 CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b5c54cb-16e5-4e72-8aaf-e9bb8fd81565 CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06de8e75-eeb8-48b5-9c36-158538d356a1 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3beb56b4-536d-421f-a3c4-2e4abe60eca2 CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62918664-2dcb-4dd3-a8be-60217bef3f31 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e687602-096e-43e5-89bf-2bbb3aabb7f5 CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5eb8ac-d301-45e6-b120-04a5523bd404 CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 282e5799-71e4-4d4e-8355-9d89e261b4f4 CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e83b30-3552-48db-9052-f73c3957db32 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83513399-2c09-4490-8b11-7b47ce3f2431 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e1a663-472c-436f-8538-25d9154779ef CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9da60d1-be71-48f9-ad3c-11c9a025ad95 CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b632b0-df29-49bb-b37a-6338c25354e7 CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 844a318f-4505-45a1-907b-9a93345430a2 CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081d8df9-b440-4a7e-b0d4-eaca2543aae3 CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf6eefeb-52da-4f9c-92f7-0cb016b065ce CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431109ed-60ea-44a4-8e01-c719b5d69fab CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cfa3750b-6be3-4810-b9a5-6f68d550420b CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7803154-0cfe-4efe-81a7-ac7c61be664f CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0253d3c-aa9b-466c-8c49-770379094119 CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3384193b-e18b-41cc-a60e-3baeb28464f2 CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d8dbca9-4f14-4ceb-83af-9b74525d85ec CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df0a572-ad93-44a2-bdcd-5c60f7834a34 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d56c46d-22fe-48d9-b4c7-584f591c1eed CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47108faf-c606-4df1-ae7d-fe27419973bf CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6e5f03e-5e60-423c-b5d5-55aea805ffc8 CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010cad17-76c8-40f8-9089-7a89c126489c CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f06a3106-0ab2-48e6-a147-de6d23765e76 CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c091ebc-fd54-4a6d-8c5d-879eb9688ef7 CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 808fe09a-bf67-4ea5-975f-bfbd7589c868 CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543428f1-7125-4e22-b3f1-39d7db8a7359 CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 418452fc-0e1e-4402-9b55-dca823942f58 CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23dfe5b-7302-4447-b760-64b17b8cfa06 CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16af96d4-92cb-4870-b87d-4f77021ea175 CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cad1835-c41d-4fab-9f10-3fcbeb275c8a CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6df16f9b-ea35-4a64-9f91-7058150ce0df CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be131be0-d034-4488-9c05-7ca1e0593b9f CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cee2a86-4c95-4673-985e-d5fa3b634cc4 CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fa3b33-41ab-4d2a-9f5e-6853c7ad4fc8 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fc7cd18-1439-461f-a72a-89d917d8a0d8 CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68f676b-06ee-41b1-bd7f-15cedca6051b CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4954a680-0098-4e27-8a73-be7508e0d916 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5858bf8-db04-4f23-bf86-30b5fabfb5ae CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6585e30-f701-4cb2-8025-ae16ff5fa269 CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75e78b5-92ac-4274-be1a-2ce48804608e CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90279fb6-a954-4e3f-9dc2-637eac70ab25 CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a20d44-d843-453a-bb5c-ddbe665fffa8 CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b69dd49-001d-4b18-8ead-41ee04cb2689 CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a56d43f-aeed-4ce0-9c27-e26541eb99e6 CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91ac95fa-fdc2-41c4-91ae-f5201d0212be CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e26abf-ca36-494b-9dc6-139fdfd658b1 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29ecc6d2-0e49-4a01-af75-82abd0567f1c CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ed603f-9257-4575-a74a-6af7fc7f4a75 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee75e8d5-643c-4f47-8a9a-c7c3d1f7748d CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae8e1e8-f8aa-4725-bc15-d5acf9292608 CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca6da593-39f2-4d2b-b547-ba823c278337 CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ded1b7-1d55-4f45-bec5-cf7da2b1dc4d CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e5e4693-eefe-4a8a-b165-bd67d3f1f919 CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8f9802-80a7-4d02-ab68-f3fcf91b74ed CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bd42de2-b3fd-4d07-b3b6-4d36e6375c1a CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79c93ac-0a23-4ab5-bd2b-c386f48d99d8 CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0e9f94f-a451-44d6-a118-8ee6812748bd CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be88fb9f-9d33-4d77-b808-2c65de069a09 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccd6954f-7c16-410b-bc6a-c78c258b8be2 CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2619126c-c4ee-4e2b-9020-9449cf502041 CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c22b8bf7-a2ae-4dad-be7c-5f9774b56014 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a988ba0-6c14-4934-b946-4e8525d91bb0 CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7579e58-d7cf-41f5-8def-3cb469759c99 CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 457b749c-29c8-4293-923c-08e26d67c64d CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed14dcf-778f-4114-91c8-be571d0c41ef CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f0bce4a-a242-4c73-9b18-5e9c866df120 CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9ad538-90d2-4a4b-b036-162ae496da77 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95b547fc-3281-4eae-82ed-84da3b0600a8 CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060340d6-a250-490e-b649-68a1caa108a3 CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d93d90c-48ff-4470-991b-a074555af65f CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74386df5-b6ac-4f9b-ae04-58e8f3b4e2c1 CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a96a572a-4f02-4420-824e-4b49ac5f2f6c CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c467880-647c-4984-ba69-4aa1a198b0cf CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39675a73-bb09-4e52-8984-a883e3a14f0e CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97155caf-7563-46e6-85b6-74f42986dd4e CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 699ceeb4-eff6-4160-aa3f-a8dbc2d44522 CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53472afe-ee20-4595-9a9e-cad07dc25fb1 CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29641d06-35f1-4cd4-a0cd-7f3ef0bdfa1b CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965ac126-ee1f-4525-9a08-f2a2b60ceafb CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8785b4c-a606-4c81-bf90-0155e751979f CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9366b192-e6a5-48df-9dda-02e2e1b86f3e CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed7c18ee-2412-4e62-a1b2-f98b347fd655 CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d8ef99-ac1b-4179-a87b-6944df468a3c CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e292b187-07bb-4aa2-8ce8-11b10b93a5d7 CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b576510f-60e0-448a-9ce9-56355a8bf612 CAID:CA1017833980 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38d038a6-4695-4df2-9b66-59721b46d2ea CAID:CA2579830381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 244f1a03-bfca-4ff4-80d7-85ebfad3ca70 CAID:CA2838140608 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a6ea16a-ba2b-4f9c-a1df-72df2cc4ba95 CAID:CA2579830404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b216f0ca-7752-4569-9885-597d4253a86d CAID:CA2579830510 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef7636c8-db66-4421-bc38-a9fcf583d67b CAID:CA2579830511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03c89361-1dce-4af3-ad96-ede0acf67d85 CAID:CA744720831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 085f4b39-3ac9-4afc-9bb1-aa01ef5d1014 CAID:CA2579830518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53cafef2-ade9-4680-8dd7-d438f39dc824 CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ccf7317-eebe-4071-b5d4-a08e5f256234 CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ab2e05-3cb2-4921-bb7b-ec76dee35630 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79b7ab76-4188-4b35-bf0f-66c5a653bb4f CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed665768-7cf2-42fc-b5d7-4152b6af0fad CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5907b541-e86e-4158-b2d6-79a8e5727a40 CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e736de7-96fc-4af9-92ba-5bc7e74a6cf2 CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 819944bb-d760-4897-8650-f87759dcc823 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24379f79-c008-4d4a-a29b-ec74ecf30ce3 CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fb4ee1d-1669-46d9-bc8c-409c1d152af0 CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab77567-ec22-4222-a944-09d9d9099d91 CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34ac818d-b831-4280-83c0-d36e11066434 CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd8d3d5-d11d-4456-95ec-fce7e67fb347 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1326245-383f-4da9-9d11-b5a65d983400 CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43055d38-cf94-469f-9a30-0a6c3289d3e4 CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e453e024-bd59-4b6a-993a-0884ad30c5c4 CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee4779d-facd-47fb-8c68-cb49dca6dee1 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cea13ca7-1138-4e7f-9d0d-54eec807c956 CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb0005e-c139-467f-b64d-a711a2265bd2 CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca7db60d-e8cf-49c8-9ba1-8c1d32028fc2 CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3742c7f7-71e2-4b96-b3b9-7f7e04531b77 CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4d81de6-31c5-4415-b511-591e51c793eb CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4191027c-8412-418b-8878-473e2a1405e7 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f86aa18-b3a4-465c-ba9a-25649c4d4c5c CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5a478a-e0ff-4a6a-8861-5d0a1cdf5e1b CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1ddc27b-ed31-49c1-a955-5a5abb284fb1 CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ac7e9b-e4ad-4ec2-a564-95ce0a72cc87 CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00cfec75-f9c6-48a5-ae23-869b89329e35 CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a331570-325e-43fa-8114-1585a804ce1c CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d3a485e-5a8b-48ac-8af3-0ef8e41445ce CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14db7f68-559a-4a2f-943d-9fd9f9277709 CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ebf4577-8f65-4aea-9b86-293739e7b395 CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64faa20f-ed61-4f77-b467-6b93b15c405b CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26960c29-466d-48b7-8151-9172b3dd185f CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead1a7bb-e22e-4a31-badb-e33497657c68 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90d78113-c830-427e-8438-5d2b12725bfc CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6041b75-7245-4fff-9e5e-d64d1a48b519 CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0e108ec-3c53-4af4-8db4-2421018262f1 CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b736b52f-22a8-4b6c-9034-3c1b52363ec6 CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3311a775-9ee5-4afd-9f48-2d73655c4466 CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33521b3d-43b5-4a73-8985-e75f6157995a CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14117dae-45a2-4b6e-be7e-bc61ae5b43ca CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db414a75-ba4e-4ce2-9458-fd9eb0f60b9d CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4a44966-ee7c-4522-b9f5-57c4db9d5620 CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d4d09a-cde5-4dcf-a3a4-60f3ed82f285 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71db961e-2655-4721-8cbe-7a5ef617798e CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467a9340-3979-4bc1-8c14-98821c7fa5d9 CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ec8fe0a-e78e-40a9-a52b-73db58e87f90 CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59497d2-5845-4cff-b6f0-033aa8f733e2 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4185eb92-aa95-4e06-b370-382caf6181d4 CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0a3e9f-0450-4c2f-af5a-2215bcd3fa3f CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 158f9929-f65f-433f-a574-d1e7909dbc9b CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0786b347-aa5a-4f4c-ad41-801ad30eeb9c CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ac31d3b-18aa-4536-bbaf-61877fabd12b CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050ad6a9-60c0-4b7c-9c1b-de21e8c6c3cd CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7795466-9ef0-4d10-b6db-0c9c6cd2b2e9 CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6193e5ed-189b-4c12-9f94-3bddbc0c355c CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58ff5a23-d462-473f-95bd-fd914514d6dd CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c89aef7-d020-4916-81bc-eab7559a25e4 CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7022dee1-d2aa-4f47-b206-1b1280ee653b CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d866f40-0571-4795-a3b4-1e2dfc464656 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62603f32-6002-414a-b047-849f198eab26 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac39a174-9eea-436d-ac59-c452893a07cf CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 025c1549-a231-49a8-8edd-0c71c23a092d CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f395b618-33e1-44bb-87b4-6bba89602625 CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e5a1e04-e6f2-46d9-8d39-875ab6b71549 CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4031076-5e94-4c04-8498-f3d24e1f4c84 CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb640126-d629-474b-ba4f-0032fcbbb184 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094f5f64-cb68-4cb9-85b5-93d780ed629e CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ea0e0fa-f4db-4b47-8534-ddd3cfd40ef6 CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 620ccae5-53ab-4e17-9c05-4e4c7d2563a7 CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95338b22-de1d-4067-8969-b68045b6f4d1 CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d84626d-dba3-4404-820a-299bbd802688 CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a12048f-5771-4c26-9a27-5dde0da28aa6 CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c664c59b-c079-49d0-89f1-c980403ed537 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff18f44e-f35b-454c-971f-83a9478ca119 CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee744fca-f1a3-45c4-a4f3-af49f6c2bb7b CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f8ef4c7-c51f-4a13-bab3-5e512b15e0a6 CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd305da-37c5-48de-8c8d-466f42886663 CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08bd7552-3b6a-4d6e-8aae-07cbf7b8c8e9 CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 145d8329-7bc1-4709-8c70-43a8c600f2e4 CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56223b1a-4b83-4cf0-801a-5223035da2e1 CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6bbe73-f2ff-40ea-8639-76574c73d029 CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11956b9a-84db-4e80-8518-fe7991b23051 CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b008ce-f636-497c-b656-d4f70551c5b7 CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dcff526-2208-4ee2-ab69-680253d781bb CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92d6d39-3ef2-4b50-a1e0-aed509d276b8 CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8b869be-e2d8-4a72-9d1a-ab78f1b31e67 CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4479f81-8465-44e1-a167-99a997e8b4dd CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e7258d3-9a07-4bd0-999c-27dd86218335 CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d712dacb-d765-4a4e-8df5-3ce38adfb733 CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4addd56-f4b8-4fb5-b326-fea734ea5ec9 CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498988e9-d2e5-41ef-a22a-c0a7ec042da9 CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e66fdf21-13d7-42f8-a17c-44c2e38d2218 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a692558b-b720-4477-953b-2599d761f994 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d758f442-a0f5-483f-8419-dd4bd921dee9 CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99289de6-502d-4e22-b8eb-36e37b5ef6c8 CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bebdc838-356b-428e-a976-29b8b9b36569 CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e68c284-b9e2-4548-b3b6-095d996d7d00 CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d5fcdde-51bb-4a8b-acb4-b36d4a36f16a CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e25f768-5985-40a4-8f20-26ebd3121d85 CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fb62aa3-d355-41f0-8b64-9dff34b333bb CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bc7b7b8-be66-4c71-b79d-2d7835d2bbad CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c4457cb-7d7c-4558-a408-88c301a46035 CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87b0e9c-82d2-43ee-9f8e-e4af9f3754f1 CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 769bdd3d-cd4f-4996-9d05-9d3f5575da7f CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aaa9f17-3fa3-47f6-8995-87cb3b3830b1 CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adf83c9e-2b18-4f30-99db-46fb74571e50 CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7ffb9c-d45a-471d-9149-b2e8dfc451a7 CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3977b1c6-df35-48bf-8f1f-afcf35ed5808 CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ee1b60-0503-42b8-bc25-ac2d399640bc CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 804aa250-00fb-4718-a59d-b45ad8cb3943 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1debd735-4c27-4245-a66b-7fb506cb0587 CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b06b43ec-7246-4031-b75d-4671284ca394 CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196b6a74-8016-4082-9902-0b38476c263c CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dc88093-c2a7-4304-8750-9a02d6d4edd0 CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330094aa-04e8-4a66-ba7a-94b87cab99ac CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1256204-6d8f-4a33-90ac-59a7431fa74d CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5caba5-18f9-41b5-a20b-22e0f9b02568 CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c19234c-222a-40c2-9fd8-9f63f800464e CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391c5b59-f61e-4e33-991e-460a364df546 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e22fbeeb-12b3-452d-912a-d2e98a7bb914 CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bcf255-496a-4531-9122-5415a407e75b CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 674f986b-5b8c-44d4-8636-f5e2b979febe CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6e9ea8-63e9-4fcd-a085-cf945dea6591 CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9761bc43-612a-4809-a5cd-bfbbf8d0d91a CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c39fb4-c169-4ecb-8771-b47b96ad97b3 CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e057a8b0-bb82-4b7c-ad62-f7e31bc3fc99 CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a8cdd5-a457-4c5b-8f01-57927a417cd1 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63056192-482a-49ba-9860-245e75efcbff CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c13ae4d-bd32-41c2-98a0-48e725c2ac91 CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 264da1ca-846b-4aaa-8730-c238b717285c CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e5675e-c9a6-423b-9062-13a4b3f826db CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c81e830e-0f04-4936-a0fc-b8ea1eb7e941 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158f1c42-2b87-406c-9396-2528fea81948 CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8427bb6c-9cb3-4c30-8279-6042236687fc CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384cba56-a565-4a12-9fc2-892a98578a17 CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5573ba9c-ec45-4cd8-9658-d12d62ea3dab CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b789d629-0089-4558-809c-8fff5431c05d CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a525e1e-2d29-4110-825a-b18878b3aedc CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7741245a-ad5a-4e34-a100-69903895246f CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4241a9d-13ce-4175-a090-dc8411702828 CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688004f0-2085-4405-be52-b4217fc14e19 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e72c82c5-a254-41c3-b4c8-09f0508684a1 CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab03c7f-56c9-4b1a-af8d-df6c1d28052f CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d6a423a-4340-4f1e-813c-24f6a581ad9f CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bd2144-efca-4b9d-9932-b75cbbeadc1a CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a132bb23-ae80-456e-beee-6cef61d168de CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3b7fe2-ee31-4922-bab0-8c8cea4e128d CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d3e03bc-e02a-46dd-8a6c-2b653fcbf145 CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7718877-93dc-4af1-8ab7-1e60c04398d3 CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76d792ab-0ae6-4cf6-943b-7b50e6260673 CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c11b75-3d1d-40f6-a080-1ad7b7d8c8c6 CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68643bf8-a2fc-4b6c-9ad1-509042b7e64e CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc478816-927d-4b36-8ec9-e9e5c66e27cf CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4731037a-3bc0-43c1-92f1-e1e54c8174e8 CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d7d3d4-5bf8-485c-b98f-ab38b4f99028 CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1927967-ac77-4e7d-8b3d-96683f0d4beb CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364f28ff-e622-452c-9cb8-3c45c8b64ad7 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 061c9067-4cfb-4bc5-91c6-f8d292bd3054 CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7786daa5-0889-4857-b20d-aa47d10fedf7 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b623f3d6-84f2-4aec-85e5-7f1973b53857 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72806728-6b85-4335-bb8d-697a35c1d1ca CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc735324-5919-4b8d-9a8e-6277bffe0166 CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec0f3dd-3b10-44a3-ba36-0d34c9560660 CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 333346d1-9019-4e89-8845-31c4e786d84f CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1dd39a0-57c9-475b-8e09-8e37cb1b4f6e CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4657de60-2d3b-4b0b-a7d1-e66b3008ca22 CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148cabce-2614-44ee-b723-d75d1283cf6d CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b67edad8-9ac5-4f66-a514-5bc5648e685c CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4feea29-edf1-4cf8-9f3e-6852f91384fe CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27154053-5227-44c2-88e1-741c6b261ff9 CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537c2624-4fda-420e-abec-30202e0fb10c CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8612fbb-a322-45c2-9eef-9461f5a30a47 CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e85dbd-85aa-4064-bf10-57da20b7db86 CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a74815ef-f021-4a28-af75-31d162ef2724 CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccb3bea-f2f6-433a-a50c-81380c105d2e CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01f03379-7896-4c08-b3d3-2194e947bbce CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56acb144-4b5c-4af8-be1e-d38d108649e1 CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 599fc633-2948-4fe7-8fce-efc07ee788a4 CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd98877-e051-499b-a008-806eecf8ef93 CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bd658ba-4768-4371-904e-dbcab228dec3 CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a5edc71-f2d9-44ac-9f3f-ea9373fffeed CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52025a70-7a07-4062-8ccf-d5f49b0ca959 CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37177662-9973-45f7-9a75-5b80808f4520 CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00567f33-b7bb-44d1-aaaf-64508d64fe9e CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e005f35-9261-4a1c-ab9f-33d3b409dae6 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b8e46ff-5ed0-40f2-8771-bf1b498de80c CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cce1d7-1727-41f2-a722-883e2fef22c8 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 544f7d4b-59d7-4e1e-be92-df6acab1d762 CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055c5ee5-ce22-4605-9fb4-c1a8eaef0f44 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fd780e3-9867-44be-bd2c-4629e1866b6a CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e370a75f-0204-4682-a9fa-1ad373f16757 CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5100a525-60a7-490f-ac5c-22b722f6c190 CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae74bdb-76f3-45c3-b76a-8a27cd7a421f CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec7b36e5-9657-4bd8-b689-3de4af95f8b8 CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d0934c4-b849-452a-b5be-ad28785b9638 CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74b1d10f-4725-45a5-9705-4cea65fcb4a4 CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f23592f-0150-4c3a-8731-6082d69a7130 CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72d92091-da95-4b09-9bfd-c0524b2642f7 CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a08746-b75b-440b-95e0-b6a9c79a847b CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b3c630a-ef47-4fb8-a751-7a82ddd7ed6d CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54fdc7f-0ac6-4357-9cee-440a0f8aa38b CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c1865b3-963d-4480-b48a-e0d416e438d3 CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33c6387-1519-49d2-8fea-828e62a127c4 CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a45dc876-646a-4e01-aea4-e3c5f69b7e9e CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db49d3a7-a7d5-469a-9d94-306e862c1ffa CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7180554-78ea-4881-97ef-fd588f162fbd CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd7f825-805b-4f27-9b56-32b569e71c06 CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bf5beea-9978-4504-8951-6a468acf57d7 CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836d2aed-41fe-40b4-b43e-2d3faadbbb3b CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 243a4202-5632-499b-8ebe-03dbb2d906b4 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062e144e-e2ac-4cd8-8890-4398eda8d98d CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b81fa2a1-7db9-4cc0-8b24-ca2df3dbe5d8 CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a9e507-717c-41b6-8235-d24a39e69709 CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a81ef52-cd9f-4462-8e2e-94225e1ee68f CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8269b848-960b-468d-87c9-e30e15a9f954 CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52ab9c8b-a660-44e0-81a5-0a295eb55741 CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77724b6-7a2d-4b4b-a78b-b5c02ce6a5c8 CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9f959d9-1d18-44bb-a603-d6fc4ecd57d6 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96f9801-3a85-4888-8265-46b3e8bbbd23 CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4af7c1c5-d398-4ebf-abcd-91b3f579b488 CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2900cbed-0956-46b7-a579-18c9c1bdd7ac CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b31846c-421c-473a-b816-b040fecd836e CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa5c48e-38ce-47d5-aed5-fec4471b0fbf CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 302407d0-6399-45b4-b790-8a3c4455d086 CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd3d77f-a068-413e-a73c-29646af6e1ea CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05c47568-1028-477e-a28d-f36e6f9b1d1a CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fa7480-8ff0-4c39-9279-5271467bb7b9 CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7c43705-9961-4131-927e-acc4d554a146 CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d761e6-539d-4907-ab01-72cce9e56ebc CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e996f8f0-57de-419c-8db7-56dae81fbf54 CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27b3c7c-7077-4973-b84a-f67793cec8ff CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4f6e4af-0b0e-4716-ba6b-8b81ad391591 CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a6f86e-93a1-40dd-a582-47e279f37bb4 CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03cbf5d7-0dc3-4474-b9a8-c9e4d85a52d6 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066aa5f1-9e63-4e28-a244-189e6a836e73 CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41f6fa7e-73ff-4df9-83b7-252b1a3f7822 CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b9b6a4-286e-46bd-8812-16309862382e CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a639cf3-75ec-4768-8e5d-bcc4261e765a CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bd5f74-d2ed-49e2-8b83-780daedd1dc6 CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51d40f4f-b040-4378-8b78-27b3c56b61ff CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d2fde4-5ce4-4d1c-a648-10a5a5268971 CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b31cb55-dfc9-47dd-8612-9037fae7347c CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84291de3-35e8-4c18-8033-43d547f15b5d CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c9d5f11-de41-436a-b85e-7002b462883f CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3131952b-33e2-46e0-a5fa-c6d7b07f0dbe CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87ca5052-70b1-4678-b9ed-2ec0bf17bdf6 CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7150f3d-31c0-4615-aca6-dfe00a6b3b39 CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f792dd0-7c13-4d0b-b4e9-59dc58c4cbe9 CAID:CA355946316 biolink:is_sequence_variant_of HGNC:10993 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 640792cc-a7f3-4a59-a742-5ee789996d95 CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b69b854f-892b-451a-be7d-4a09f176e10d CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efa8c48-e03d-4386-9522-b1664b772bfd CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da01ca43-5323-42a8-abe9-e17348884356 CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdcfeaf9-d82d-4e7a-8bad-56a3a8d7b422 CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec612c8f-2f61-4e5e-8164-14edb6e83595 CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9408f3a-5a47-48f5-8dc8-309e433ec3f2 CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b26ab126-0881-4007-bcfa-18487f02e730 CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60281dfd-7743-41e6-a660-f87711126cc4 CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04c5ce86-a5f8-4051-b373-eb5f2673eba4 CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb00c84-f2d2-472b-97bc-d7a2a111a3db CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 016e1612-3b70-43f7-bb3c-2307aadb9d27 CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3677b0d2-88a3-4c6b-93be-94e27b3160e5 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d947060f-0ae8-4102-9019-1fb4d4353089 CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451a9b63-8f0f-4667-b830-9d1b92a16f03 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e99e0ad3-6025-47fc-9b34-98b7090adc06 CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c5354c-6d9b-4ebf-8613-626d33e7ee98 CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 660afd70-22ed-458a-8c06-6ef50c3548cb CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7280c747-b28e-4e1f-8b8f-8feaf24b1d8f CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 387dbf6c-421d-407d-bafb-8cd4b1f3a94d CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d920be-fde6-44fd-9574-b4a396ffe194 CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 127df846-ad95-499a-bc7b-981e0e8faf7c CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da138670-21e2-4f59-bf72-3f4262a7a34b CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6031b921-4eb6-428d-ba67-51b6d59de415 CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf77f0a-8637-48aa-a301-0855b9ca9395 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b21e8e0e-fcad-4e7b-ac20-8ab032f808ae CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16240d43-978e-4f70-a6bb-92256c0474a6 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bdc05816-4317-4b42-ab72-9af097a2b072 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03bc770-9770-45a0-ad56-e04e087e3dae CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 776dffb2-e61b-49bb-983b-4d79fe665f63 CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b38901-b3a4-459c-b99b-32ef710f7e28 CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49a16148-398d-40fa-a6d7-7feffc216a2c CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72170029-ed71-4c3a-9d13-4d547ed3c276 CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a46cf390-ce72-4e4f-8d8d-86c2d9a85d8e CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6301fb-f216-4803-8cb8-c0f2b8796dca CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea930250-dcb1-42b4-9a32-35135e414d3e CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62af0d20-8a0d-4ca8-8eb6-f32851602e3d CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38bd02b4-1738-4e20-9b08-e4abbb7f2aa2 CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4113a799-428c-4c48-9c45-8d3d717f64cc CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47af5f6f-06ca-4cb6-b3b8-7a97f1336a8c CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512d5d73-803e-4460-9a53-382a1a23a0f3 CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f0697fc-2a08-4569-b146-5a177b3d78b2 CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6250e72-5d3e-41db-830a-b7e3b23d58e5 CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf733f4b-2228-497d-a540-0a41c95627d0 CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3a3a7a-9b2f-43c6-a1c1-81691e19be7b CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db087310-949a-4f15-9dbd-e379eda0a05e CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d73d4f-d83c-4d5d-a15b-14c7c0c4c96c CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05411bcf-29ac-4190-b1e6-83f1f91e7fcf CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbe291a-2b87-4808-8e30-7cfcec166634 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16f49afa-e346-4e7d-8272-f082685c7ad2 CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a59ada7-2139-4dd1-8a06-d238ede27853 CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbeeb0a2-de95-4bde-95ab-ddffbd00d927 CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f25092d-b351-430f-8372-5da6ce9e6299 CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b44020b4-401b-40d3-8892-3496e970ee9b CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1107b20a-1e0c-43e3-91bb-040cdc3d97c7 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab0f445f-278d-4620-8c12-ac47b6a0c9b1 CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d51506a-9c9a-4fec-8df8-80c07b0e5b31 CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df90f3c0-ae57-4517-9d0c-d34b5d7eb716 CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167f4fa3-f942-48be-8a7a-045e54f1e77c CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a561781f-8684-4423-b1bb-d98a0548ea13 CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdd5ff5-3acc-4d45-a7fd-dbad8a6f31d3 CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d320daf0-b646-483b-b6b9-096e0849fa53 CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779c838f-8aab-452f-bfa1-8c443f0e8fa6 CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46faf1a5-a338-47a7-a2bb-a3e950ffdb92 CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800336aa-b5ed-4056-90bd-b70d00e00b1f CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71b1c2ad-f20f-4afe-ac98-feb9654588b0 CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb89b28-f961-4d31-bfd2-1b1e6e72875e CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96eaed6d-b379-4ac3-8aba-54fd57446557 CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e4a270-71f5-4b5c-a174-5bfd40f068ed CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c6603f3-082c-4d0c-96cf-1987eafa981d CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d12ca51d-ee0b-4035-863f-6dc649ed22e6 CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa8efb6e-725a-40c2-bebf-98f90322ca05 CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1422e3-23af-4525-89e3-c696f0110462 CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5591a190-5d3d-4532-b975-e34e7de150df CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3dedd4-c814-49a2-b21c-f1518b1f111a CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2756ce2-1742-49fe-b9f2-5b2d2afd41a2 CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ee761c-7afa-425d-89af-f6d5e1295463 CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3350d12e-cdfc-41d5-a337-b1e3f08747f3 CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8d6f03-7a56-4620-8855-a1de28e599df CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01baf8cd-7116-42c2-8418-9e2f9d182e4e CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70279355-60f7-412b-b651-f2b25bf019eb CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a0f1121-17b5-4f13-8dc6-28089e040ae1 CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82eb3d1-ac50-493f-ad76-d61a68d5b2dc CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b521140a-c01a-420f-bac1-012eb1e0d7d3 CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc05aede-af56-43b7-84d1-5bc2bff17968 CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 570059ce-c179-4338-8928-66a23969bd1c CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1684d4df-51c7-4e31-8a33-880020e73f29 CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 294158ec-e935-405c-9763-7995774c4cc7 CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d8c1d24-434f-4cdd-983f-59ea0edddd33 CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4cfa42d-fc9c-4029-bc86-74976cd2d895 CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a9d715-4e11-4fcf-b795-94e1519292ad CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ccac976-3238-472d-a0bd-17d467439bf5 CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef51617-a950-4bd8-b0e4-f979d4ef07ae CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e31c4f59-3810-476e-8c84-d9fde16af918 CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f94009-b6b0-49cd-a5da-ddff6945d168 CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45ad8703-9c99-4023-acc4-6a7a930e220a CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b297392c-f7b4-463b-a05c-143086bc9629 CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddf0b156-c4c4-4609-a824-7f6cf899123f CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c68c470-6812-4210-a499-90be449c5e3b CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8e90239-14f6-47d0-97f5-739c31804645 CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc3b389-f22f-4118-a857-a22d0808d4c1 CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e6f2bac-6e45-487f-a0f6-914c74deb3ff CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8760c3-ac48-4388-bfb3-a47628434ab8 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59683075-e795-4020-8518-51049ee3ba5c CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8034325b-19cd-47a6-a6b4-e0c605fba5d4 CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb40a4a7-5413-418f-8107-6645a87cb876 CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358447f0-0b51-4fa9-a497-ab5ef3b60230 CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccede2a8-ae34-4762-bfbc-522ac209f042 CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7972c8d6-773c-4d65-87fc-95db954edce2 CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af9de7d6-42f3-4b5d-9801-56b50cd10d4f CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd917618-d771-4803-9522-eb4d427b446d CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd455688-ba5d-4ed6-b00e-add3dd8cc1ac CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8884cd9-e6d7-45cb-8476-8a847413237b CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ac003a5-b7c8-4192-964c-257ee89d600d CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6151ff24-274f-449d-9254-a6b8d67fa907 CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 558d833b-3d86-4089-a37e-39dab18dfc21 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f6dc1c1-8c91-4059-8772-6fa8f3c71ea4 CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b040f85b-4250-4d22-b3c7-ac03d3af06a7 CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3539c4f2-e81e-4a0f-b8aa-b27726ff4b45 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51193e6-71e5-4115-9480-fbf800d43ad0 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bd275be-9cbc-4989-9e08-afd2a2578248 CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b607ca6-1a8e-45c0-93ff-c93eb0e4bbbb CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efeb2435-4732-4a18-941d-2bfdf51f5b8b CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5559e9e-fb7d-44c0-83e5-1eb7605dbc71 CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6124123b-3f02-46dd-ac87-8cb0dff5163f CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0c6466-42b6-40b4-94eb-7dc28bad1cfc CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c760a5e7-a4e6-46a0-94fc-c2c2d53c3a09 CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291545e1-d182-4305-b233-fdad45c55006 CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c5ef14c-cbd5-49af-8a32-a3a405eea596 CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba8a65b-259a-46cc-b95a-9756471ade6c CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00d4c74b-3e89-4979-8d05-cf282028264b CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd684c3-abcd-47e3-a5cf-7e4bd6ccb943 CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f071fdbb-ab17-40cc-b010-c1229d832323 CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f2a05f-496b-4ea7-b4ed-482e3caf5598 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1068528-b9ad-4209-be41-5c61a8950c3e CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9f4474-9623-4cd1-87d0-af0ca68f8119 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6b588ed-b5c7-4e6e-8495-b7e6cf930274 CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d924ac5-b6a9-4b5c-9c03-7480ea8461c3 CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eae3b9de-9518-45c0-b8ed-9698e3c0cb98 CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd1edff-a478-455c-8292-8408b9e68c2a CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 663d35d7-8c2d-4fe2-9093-860b6062667a CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedced19-1325-4b0a-823b-40cf1f99023c CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0015fbf6-6273-48a0-99b5-6be221705c0d CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255d39fc-6d24-49ac-8c65-f2b12c2aad59 CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6308ff1c-fb08-4937-bfec-ca23e99c056f CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe2e313-9b99-4f52-9fed-02cce3ef227d CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9354d38d-a1d0-4cf3-91fe-d8beaebdd41a CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81890df-52e4-4df9-b1f3-1d0256bdf3c5 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b4c090-2a17-4eff-a579-00443be7aee0 CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5abc8-130e-43fc-ba96-74213666f462 CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74cfad17-cc3b-462b-848c-9ef0127e0a79 CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab284b67-8e72-409d-8624-f1822491f804 CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3964ac86-5677-48d5-96e7-22e19ee49084 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25095fad-94c1-4e1f-8501-2fd7da7074f6 CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8b87adc-e6e5-4e00-ab7b-e778dd78e0b9 CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8164765-359f-4eda-a0e0-52c1f4be5fcc CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 341d555f-1f92-4049-834b-adddb1f8e085 CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63ad87d-c705-44da-9460-bf79e5a62e48 CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e9aedf6-fb89-42a0-8850-fd3573d5cf40 CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ed1f78-84c6-4182-a69b-05c90b2d463f CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b4df3c1-f3b2-4977-9fd0-b9d1957c2992 CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49dbfc24-d85c-42b3-8f0b-f31d040be3f9 CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d869adc1-c698-4cf6-83da-40214eea664e CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df30dc6a-5c80-4245-bb3f-f96ad3b22ec2 CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b4aa5d-4a9d-469a-aa28-af980394f970 CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f41bd855-ce06-4298-acae-4c8400ce96c2 CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6702b7bb-e38d-48f9-ba45-b1da068f68d0 CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96886180-b54c-450c-b316-ddd64763e74c CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c66428b-37ad-4d33-95af-1abbf9a81a27 CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b000723-0470-4730-a944-b061bfd88193 CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a915d2d-19af-41a2-bf05-ba87afeaf920 CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59553b9f-12e3-4fa8-bee5-cc1ff75d0d22 CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a893a965-1e46-4f59-b8ad-abdc768f7773 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945f5129-d082-4f3b-a779-cbc7df66d8ea CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 757ed7d1-b534-4337-affa-f1159e6008ed CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb3b3cf-b041-4e67-8d44-f4ecb29afc81 CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc327d15-5502-4759-818e-2fda14972fe6 CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe9c0be-443d-4cd1-8234-3a30e48d4abf CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a9eca94-d84e-4281-973c-7bcdfd61b6a4 CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8519ea48-dfd9-463e-bc64-5b9926479237 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11967392-a3ba-4689-afde-ca9cd7b60a8d CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fae562-43bd-43ce-aff8-7c717ebceeeb CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cfd17e8-4194-479e-93d0-e2fa08b05c1f CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146b0421-f51b-48ee-8849-6f116c2c51fb CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 584c6da2-a641-4dcd-99e9-84a318aaaecd CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693e3da3-639f-4eeb-a3b9-eeed1adf8dd2 CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 363cab36-0e75-4141-b8df-109985750c5f CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6910df68-fd06-480f-b24e-bb9d97890384 CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26777184-9b24-4da8-bfbc-7aeb807e0b46 CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a30158f8-ce68-4075-8879-d11a1e0301f2 CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 354d9f76-3f18-4e33-b64a-9d6e7959d6fd CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5e4a99-6a92-467e-b9f0-e02227cf7938 CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80516445-8e15-473d-80ab-b1a544edbbf5 CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d319e8-100d-486a-9a85-c86766fa5083 CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2118c5c9-509f-49a1-ab24-cd3ae400d4fd CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad222024-6733-40e2-b376-9e1ea9a1efa1 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9ffbcad-d573-4388-a39a-8f9878d7b135 CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec79b38-1a75-4113-b922-14ed3f54bee8 CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3968557-5b81-4797-9349-a531163f91b7 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9f397e-d18b-45ae-b6c6-1c7ded1d8c2d CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a5e7652-3035-48e9-8825-be491ba41fc6 CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e7c6c55-9907-4d22-9ade-af0e1dfa9342 CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7b73c13-7239-43fa-9f9b-1261dee08712 CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df579da6-cca0-4746-8fae-7351b0dda045 CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46da3425-d0de-429e-a9b4-38e67d9fa994 CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea29c0b7-f597-4859-a134-b93abdb62f3e CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 677327f2-5006-43c2-ad46-a2e039bd0303 CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54ff298-c72d-4e9e-8cce-7fbe42b8c34e CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29b4616f-3e8c-4d70-8d1b-8c93be05a8ea CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8b8412a-c5ec-49e6-a7d8-01899ad240d4 CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb27dfec-fcb6-4d86-b4f5-7cdb54fb5709 CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ad86c5-dc28-4444-827b-87b77f3d40a1 CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6684649-0f23-4426-97b3-00e807a47682 CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa911d3-3ea0-4b21-a856-5eec7f01d360 CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5f757b3-f798-4e85-9187-37b1e944c152 CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c84990-db07-4222-be09-735f36297a59 CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e60fc4ca-3871-413e-8cd2-e5f92f5e8b3e CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a0e42b-2fbf-4540-94cd-85575264f51a CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3772fd7-7b6b-43ea-802f-18e5883ed2d6 CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6c5c23-1c46-4fe3-9560-2decc7eedfb1 CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf7613b8-986a-4b9d-ba39-e18053a9d5dc CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22216744-3d43-4586-9658-c95bd16729e0 CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 022d6255-3040-4c0c-b29f-eb5d18d27837 CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aabbae2-a6db-46ec-b197-291146d8a8a0 CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f883c165-0fb8-480b-9554-2cb1dc46386c CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa690561-ef3f-4d50-8574-a4869e48da0e CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f5e818b-db04-4dba-afc7-980d81107ac3 CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10ed89a1-21d0-4200-a65e-994d8da12859 CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7389a30-6555-4ec6-b23c-762f1ec038dc CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3efbf2f7-f42b-4772-aac7-0ec0d8d77f29 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a67e49-f9cf-4fc4-b21f-2fb5bf6881e8 CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bc932ee-3c88-4d67-93b9-8d0fb2f7f048 CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da5dcd8-8761-4151-98d2-24602a378c3f CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c80441f-0c6a-48fa-9d84-31dd04ac24b4 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f77ea6-fbfc-49ad-b9d6-c08d5cd4b9ce CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1a46a16-02b8-43fa-8866-09f94a411b00 CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcef74a-c518-48da-9291-368656c0f3ed CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9988777-61fb-44dc-a67b-df35dd9f6537 CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f030a5-99b8-402f-94ab-6d58bde899cd CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e9005b2-7b85-4f37-b8c1-11ce1b4a78ea CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3f044a-0549-4c3a-a664-61eb6bfb72a7 CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50803048-50ad-4209-8556-e48f2e0e628e CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85808932-c3d1-4e69-aac8-84557deb2c7a CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad8ff9b4-c5c7-46d6-9436-80af0545cb36 CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9b3d93-183c-41b8-9353-f6c3d387045a CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b870bb91-7e80-47e8-92bc-b63b170c24be CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c999efa7-a2cf-4126-b47a-90c0a784ba3f CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03c8f8c9-e087-48c5-88d6-b1bbd3384b9d CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4157b542-018c-4359-ba25-f1a6746940a8 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 693e0f1b-df55-4a53-85f9-86e5a1174ffb CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee32a70b-1eae-42a3-acb1-2481812b472f CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c99cff9-3f8d-4dea-96bf-269c2c831d83 CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen daebaedd-a2d2-4352-8131-13d8ef1554dc CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6018ce14-9be1-4a3d-9fdd-6f83dc5fad03 CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f57d3f0-f523-4a26-ab4c-67f808574acf CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a0c2385-df63-42ee-994f-4169ec1987cd CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 014b2ffa-8447-490a-9e01-394fa78f54af CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3e6e74e-0a44-49af-bd1b-52c825623452 CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e47661-2193-4c23-8ebe-14badd4f6052 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 220d174c-ed81-436f-b5df-332d4b552c78 CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae66329-fc2f-4d0e-82ad-0fd998208749 CLINVAR:425918 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78965e7b-1700-4376-8bd6-bb9d72fcd8fc CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e2b770-fb9a-4810-ba48-e2968a253ecf CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af832600-13c2-4071-87df-50de3f630f0a CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77635dc-3181-4e4d-9e7a-c91c294997f3 CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7de3dcde-e1a1-469e-8909-e01bc88931e9 CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b879cf-128c-4ddc-aaed-3805d342462f CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce8037ea-7428-43a7-bee7-04f640f10153 CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068eefab-1a7a-4d31-9914-8c57775a2dc2 CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9770fad-6781-49cc-82a9-b25d8bb03a4f CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75ceb15-4bc3-422e-8c6a-885cfa645977 CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d8f013f-e41e-45c4-ba72-626f001106d6 CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c214a79-d584-4ee3-ba72-7ad0ef660e34 CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 669801a4-c12c-489d-92d4-2ebada175e73 CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17ed28c-ba22-479d-8077-6429b72b5c92 CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb7bf53f-6919-4ba5-9a4b-72d9bd2d7ebf CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbe0502-1abf-4ea2-b1e4-beeaf21b17f5 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c398fb89-f531-4dc4-bbdb-a6105876d453 CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f43567-fc3a-4ea6-9981-16d8afbb854b CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00e1b7f4-bd57-46e5-aa08-25bf938bd217 CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f20020a-a828-4748-a57f-cc92b09082e2 CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e7597d0-d702-4f28-94ec-89c2bae0fb8a CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e3f3e8-efee-4001-9f33-c4b7b6ed2e9d CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ef2783e-c3d7-4a61-a43c-10e9381d6265 CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582b4736-e4b4-4418-8d70-773bae2338c5 CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61a684f8-23be-44c6-a8c2-232ad304bc2e CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3db249-788c-4be8-830b-ae4e4c3a6585 CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 018df5b9-8cc4-4fdb-a31b-a60770b87dd7 CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852b057b-6871-4c5b-aefa-4033d968b42a CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cd08e31-15ce-4496-a010-d153051fce5c CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c61fc1-0d79-4e5e-9dc2-f6c7ad942dd0 CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 258579f0-50d0-40c7-af40-c16ec8407681 CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b917ffe-00c2-49ea-971b-697a142296ac CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ac240a9-9bd1-478f-ad87-2a967a9c9089 CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2a3287-f039-435d-871b-44f17ce568ce CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55cba997-0d0b-4c12-8af7-0a9a57be473f CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cee152-cab3-4a16-89ad-3bc7ee33eba6 CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3739c665-84e3-4605-866a-cc879097f3bc CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14c0205-3af7-4b88-8937-729076e7f635 CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae4238e3-1fb6-469d-99c6-b60f77b9043b CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1aa14c-12f3-47e1-ab0a-bda832b3360e CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06251e50-9a58-44ab-9000-8d8de510d83f CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5cd561-9e7e-450b-8c06-824b75dbacfe CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6de9ed2-6807-43c7-9c80-23bd0cdb79d4 CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d584b2-f61f-45f6-bcea-54cc60d167bd CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 834c2ceb-a3bd-4f4f-acdc-46d4a37ddcd4 CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06068b9-06a4-412f-bdf9-8eb5de5c2c76 CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fff7518c-592a-4f0c-9c6f-ae77200e975a CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca73ca4-a4d7-492d-ab9d-3a4cf80247d6 CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1acb6db5-32a3-4bf3-903c-ad4dc6baa3f4 CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2069838-4837-43d2-8d82-ebbcd8bde500 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28cc3206-6a5d-4247-81ae-482311c03107 CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682cc45b-378f-4624-93cf-b1bf6a106a14 CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ae2061c-15d8-4f3a-8bfe-2e8e2e3001c5 CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebfdfd3-411f-496f-9b18-eade39e90758 CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12807a9d-f2c0-4a16-8825-a8377edc662b CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e299a041-41ee-4157-9cad-4b0f7362e9ba CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 577e0b1f-73f9-47f8-b6f3-f8ab21934639 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae8240f-331d-46c7-8fbd-ef7d43659718 CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12e46244-96a1-4ba2-873e-785defd50d23 CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59350ec0-0159-4642-a61f-b3f9e248087d CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90c26052-f163-403b-9ce3-7d0d90f7a085 CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be57a85a-ac5a-4674-8093-c2f18acb6bab CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 369a2d5a-875e-49cd-8e21-747936dfac90 CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec8049a-d2e2-4102-82ba-c378a521242c CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd1751c3-1e1e-48ef-99b8-83c50d66f9bd CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb0bca1c-1832-4020-b99f-508b20a5dff6 CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62f10d14-bb16-481c-9c81-0ca9bfc3db1e CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2698b8c6-18ea-4918-8a92-d2a1236ebacb CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75035eae-473f-4799-9613-edaf01637216 CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5df3a3-f900-477d-90f7-1fcea8bc6661 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b297d28-c613-42b0-a33d-e3a47fe3637c CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f20472-ba20-4eb7-853a-e1a19cb86381 CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3e8618a-459e-4ab0-95cf-e18f68b21605 CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4285b739-0fc3-4b61-8aff-80830fb0ae8e CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8003fe6-db44-48f5-a163-67a80e4dbcd9 CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1420cae3-7db4-4039-bf85-0ad2f5b70a7f CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b333eddc-818c-44cb-82c2-26e76731d573 CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e00c1b-dfcd-42b2-bbdc-bb1d9bce8ace CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6055597-04fa-4209-8c98-ee2b5ad70a39 CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc37c18d-bac9-40e5-987e-aec74ea9114c CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb3d6d5b-41a9-44ef-a772-b7aa171144a1 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4bd60b3-a1d0-4d14-ab3e-16cfbc2869c9 CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cfe1324-90a4-4c04-a2b2-8f837eccf4ad CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef32d9c0-3094-4bb0-889d-e9584554f07f CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b642a47-feae-4565-813e-9705986014a4 CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff63834f-63c7-47dc-b377-402e2e0a79ab CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71479e8c-2c0f-4178-acef-7e6b470e8761 CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6061786-59ff-491e-8840-e9cebf7d06a1 CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a9bf095-550f-4f7f-a950-1ad7309c642a CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9087fdf-acea-4799-baf8-d04602b07e42 CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 002a7d4d-9552-43d9-bc94-e396ac728226 CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013dadf7-c2c0-42bf-89f6-ea890c2b3437 CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfc2225a-d207-40d9-a218-a36bcdba4752 CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec22eeae-aa53-46bd-816d-c7047e9803b4 CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87760167-36aa-4d94-8714-34749a6e033d CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d43a289-4e7d-4472-a573-bba1301196a7 CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen add56923-0272-4306-98d8-44b620cd425e CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401ac3e5-ade9-4148-abf1-fcdf27ac05d2 CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 853f39ce-72aa-4610-a88e-418eba87dfb0 CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc6ee12-30c8-44c7-a161-63adefa12972 CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2468515f-591b-420d-b0f3-8d38e6f159c1 CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0803d284-8555-480a-b4ee-58f51a3bc68f CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 906dd4ea-abd8-42d3-8135-7fafcab4b2fd CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ebc775-c364-426b-ae30-9f18d11d03d5 CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 497e7373-116d-42e3-8fd8-b2dadcdbf228 CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9020bf-5e89-4d15-a9dd-414f81616acc CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7f165fe-09c8-4e65-b730-a6af49f63a9b CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f90558c-6a4e-411c-978f-f46761f99b77 CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8200d35-7ff4-4d75-96be-5d7796a344c3 CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131c9a94-8fa6-47d4-9a7f-6985f5c3f6eb CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb6d2ce5-187c-47bc-8681-0da60c9a2f06 CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332dbe38-e848-4f5e-b6b2-d901ee5e3cee CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 161a1cd1-9421-4087-adde-43868c6a03cc CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d45306a-2da4-4640-987c-d90af50d66dd CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ce11022-9234-4eee-8b47-5e2c7e9a16a2 CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0242fd49-b1c2-41f9-94da-2f78ee5bde53 CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c9f3bc8-69c9-4ac4-9f6a-b2025b5629f5 CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e8ca44-8f9c-4f9a-b294-3718bc80174b CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c28a742-a455-4633-bc96-8df01f0048b9 CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96bfd8ab-3cd9-4320-b476-d431446c7b4f CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b318dfc9-4c47-4436-81f0-d9b5ff024289 CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4094b7c-4840-416c-bfa6-937746efa496 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afabddea-2634-4a47-ba96-7fe806aaabe2 CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c0204f-9ee6-4d54-b7ca-5730dcea80d5 CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73dd8aea-78df-45dc-b13f-503dc54cfd68 CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a253fb9-051a-48e2-89cc-d45a19e0a818 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1d6e5ed-097c-461a-8cab-08e03a153b4e CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dec9c08-b99d-4cae-a235-5f4734c760a8 CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 857e24fb-1625-4620-9976-8d833a22aaed CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbafa707-a86c-4dbd-aabe-6c96197a5934 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11177c17-5436-49a4-9da1-0d0d0c14da39 CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3298a8b3-2e9d-4c33-8084-53753e6d758f CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f468e89-c683-456a-9002-3ef232a69be0 CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c7dc98-04fb-4fe1-8798-3b71956d6c2d CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ca61215-caa8-4acf-bf80-a82cb4dbf7cc CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfdba25-9db7-48c0-9b8a-aa240af97109 CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0d071d3-066b-4e2d-bb3d-53d09db6fe8b CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c2252f-d5c0-4ce6-bb16-393fbd9220ac CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90a8f25c-fb87-4420-8fd4-d452d14fc6d2 CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ab0990-404f-4d1e-85e1-a9a3b759f71a CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b8ce2ae-4c9b-4b3e-a29c-6dfa897aa2c9 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1101bd1-1ffe-44e4-b158-cdf482f6b284 CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ef853fc-4cf5-48a6-816e-dc2e40a6b26b CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09393a6a-2cfe-44c2-bc44-c7c0d742ed15 CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 835e40d1-a4a8-43aa-b780-23ec6db96567 CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30a4563-73e6-4095-801d-86c0513910fe CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23b80793-61cc-4f11-bf19-23b7c7bb077a CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf338ad-6d6f-41f2-a67d-ebdd92d03316 CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b341b475-3a48-477f-acab-682d3f839d10 CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e8a746-c7f8-4ea5-a5b3-d164e324be06 CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac6e01dc-df82-45d4-80c5-3ac960e35784 CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20af3ad0-a692-4491-8c50-0d4b09f20b16 CAID:CA2579830398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e89987e-ca30-45ab-888f-c9fe394d009b CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dda7d9a9-80aa-4e0a-963b-f43d10220456 CAID:CA2838185707 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0287a25-913d-409e-9324-e6041d298028 CAID:CA2579830394 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2c0b711-53c0-4307-adfd-b846b78efa6a CAID:CA2579830387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 981fd7fc-c8cc-4c85-92e9-0baca1454ab0 CAID:CA2579830374 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf4232bb-1601-4c51-8249-3c7c001d1786 CAID:CA2579830370 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b1a0d6b-2e32-47ae-aea9-f076f3f19193 CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e2146a9-7716-41b9-ba5a-7c91be3db482 CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66a4d01-9046-4600-8897-9ba478cc34dc CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8e23710-bb99-440f-9408-1e2bacbfcc03 CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b59c9b8-44e9-4440-a1a6-82ab7cfd0706 CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a71da8c4-9733-456d-848b-78d07b1e91bc CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecfb010-2cc7-4cc7-9e73-bc7dee21328f CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2518fe5-b56a-42f3-a0d0-26099661197e CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae16259-062e-447b-a8f2-2cb079efd865 CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3840fadd-a656-42ca-9f5d-494b813a1276 CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c82bc88-43cb-49d4-88e2-b562b476464e CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d285afc-b01a-4eae-948e-267f29d7dbec CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd29b940-5677-4499-923d-c910b9e79bac CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4f13c8e-8d12-4be3-a415-86cd60b8e1f8 CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6006838-004b-43f0-9e4b-7a0906e7988b CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ed69cd3-9e30-417b-9d7e-b7f3c30e55ef CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c84080-91e2-4062-98a8-5764b3aa62be CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce66db1f-aa22-4ac4-be31-c2f2fd3d91c8 CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cc4068-ece8-4815-9c66-9b94452ab086 CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 810700d9-0a3c-4a89-ae72-0ea7a7642d4c CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a04eac-f74d-4d36-9313-c1a63cd3b986 CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 038bc015-8aa7-49c2-a046-47205ba20970 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8e938d-c804-4af5-b94c-bba3751d0939 CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcb40463-3a20-4efc-89c2-8d7fde23bc8f CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbfb5bc-250c-4196-93c4-fa63c41302e5 CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08db2fc6-8caa-451e-a961-240732e6843f CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd59201e-da41-44c9-a9f8-e0db41085f61 CAID:CA3062640037 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f9f9c81-ff2c-4580-a2d4-976bd9823873 CAID:CA3062640037 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464d9f05-5cb9-4b2d-a533-32a2aaa5d43e CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c025db5-461f-4547-93ef-2a1871886ccd CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f11e5eee-d4cb-46b2-a26f-b8f2b7ee5388 CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eda5bcfb-891e-40d7-b768-f578903d1431 CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8914fbb1-d116-4604-88bd-5e8e77e7e250 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2677d152-47fb-47f0-b1d5-c7a3b0ba38a1 CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd53aa8b-71ee-4734-b6e4-8e082e0bf870 CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ea1a75e-577a-4cf4-ab41-868fa865e471 CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b7e79c-650a-4542-8901-4148a5af5161 CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dfa2802-74d1-4a1e-a073-51ca28702203 CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d90f2fb-d4ad-4181-8664-6fbc55d1dbad CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0627e682-665c-4b8c-96d5-49b5cf3ec4b2 CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502be9b2-b430-444e-a137-e73c8d1df395 CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72d353b6-827c-4aaf-b330-886b22eafe79 CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b8d2c2-0d50-46cb-b2e8-2cb2f8baf4e5 CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ba285b0-2c48-4e96-9dc2-7b94e7963577 CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9be578-24a2-4d96-9183-81a941de89dc CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1a15da4-6ed4-47e1-bb7f-9571ebf20c83 CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 287086a3-7370-48ef-9ef8-57b63c6fe357 CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fe0840-411e-4acf-b43d-1d9de900b603 CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d4311b5-e3fd-491f-af08-0a16c92095b5 CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96552986-987c-495f-9f91-462db01b176e CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbf661ed-7a00-4da0-99ad-84d367911944 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69d6cf0-85df-4cbd-828e-cc96522ac066 CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f98a9d5-06e8-4dce-91aa-0b36da16404a CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd024cd-9c9d-4e06-8b26-e9156b95d884 CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea7d7cd2-fb9a-44ee-af47-ddb592c915c0 CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785a0efa-be4a-4919-8922-1601ad761d25 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c111f3da-ec21-4fa8-837e-95684f1be8b1 CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8bcca0-26b4-44ef-a088-764e77819b68 CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e61d487-7ccd-4615-b66a-879611decbd9 CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f12394-107f-4891-be92-e8ab422dc09a CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47cd777f-6c84-4616-a012-254a7f1d7e42 CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2e8753-7f19-48f8-be2d-6b92eac9ad9c CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0f62e21-8b3a-4e42-aab8-60eb0f187763 CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2802ec5-edee-4b4b-8ac4-2287f75152f5 CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7093f8cf-60f7-4452-a621-cdc8b940766c CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 798c3773-c059-4526-bd85-07044cf3b58b CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9b5244-130a-47fb-8e90-2b06a3a2eaec CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c6f39c1-0f14-42ec-bf53-560db517f44f CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5380977d-37e5-4074-b758-2c601bf9fd06 CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b43cdfd-c3b3-4789-9840-55bb05d45596 CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02381185-f8b5-4955-937c-6a685fd76ed7 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b61a46e-6b5b-452f-ab3b-4e0a6e71ed4d CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da659a40-eee7-4d88-8f40-c8349c20c112 CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70c9a4cd-a30a-4663-8f58-eda19b56ce9a CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28cc3baa-260d-4421-8319-84c77d24a1b8 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84def48f-b99e-468a-813f-5999e10d379c CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a920a3-75cc-4a0d-995d-bd8cc83c5a46 CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2f5c797-bb8f-404a-bded-4ea7938c0666 CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0195503-59bf-4b76-a447-dd6211d91042 CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60aae99e-fafa-4f67-847d-0dfb76e4598c CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e004645-fa88-4d69-899f-3aa7db1b5bc5 CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67f40060-5bdb-4c6a-9dd8-d0326724dfc2 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c946be4-f589-47bb-aa33-07c5f0266d4c CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29dc77ac-8fc6-4269-b20c-8a972a2c6186 CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59d3111d-ed38-403c-852c-797b4733c954 CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3bedd2a-f0db-499e-baa2-0e886faec0e9 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e29c1af9-bcb4-47e4-8e97-c13b2a339764 CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73483b2f-dea2-413a-ae77-503eeb63541b CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed394a3-9e18-42da-a492-8b1a8b72817c CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba1be09a-304a-4c97-9016-8939e5c4b8f4 CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 063627d9-32f9-4e31-92a9-9985b858a4e7 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d334fb2-8089-4243-bfcb-53245c3a2a03 CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47bb7d02-e8cf-4237-a051-9d27e1388e2b CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91eb4f83-07f0-46a9-95f0-e4df99eed6f4 CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4caa348-de0f-4869-a320-6710f1c0022f CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e220e86c-626b-4266-8b48-efad279cb642 CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55a7e8dd-a99e-4999-be52-58bb0611486e CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19a74daa-01da-45f6-8f75-c0caccce258f CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e557b5c4-b928-4fbe-b1c0-62bb518caa98 CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc60b46a-1a7f-477f-8cdb-ee1367d616c0 CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c058df-6070-4d60-930c-b868c150135e CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e72b4057-ca3c-4d45-b094-e7a211744b44 CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e5f8cd-5129-4bcd-9235-2b44fc7af925 CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2a0e026-67d8-4458-8026-aab585909438 CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ed9151-3245-492a-b289-866366c4612d CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f474c768-3f37-4f5c-b450-22750bf95127 CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ef3262-ffc7-4db9-91f6-a08e6788f852 CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d62197b5-0e46-464d-a9ff-c6763c26308f CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315b3e67-7575-460a-8160-df753a41bdd7 CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b738a53a-950e-4806-9dfe-bc69ba2e781f CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7eb72d-77b8-4601-9fb1-9f8345cc7f2a CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1563c3ed-b737-48ec-9894-84a957e3f3c2 CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ebc178c-5627-4162-9060-fac464ae5800 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09438e4b-ae7c-478f-b82c-bf28e9589d84 CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68517d09-8b60-40a8-916e-88f5b7fcdd49 CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ddc8532-86e4-4bf1-a624-c92ef8a98006 CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d0e93b-0b46-40a8-93d5-083b71acaf3a CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab543db6-f7b0-49bd-baf0-b1e8a81e03d6 CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f078450-14eb-491d-82fa-f7f63426141b CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67b98728-b76c-4e45-9b81-34324e921ec6 CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27a451e-5c16-4414-874c-51b9db0a83c4 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d81d7f4-5990-4f8b-845e-52473bbbca3c CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167bcaa2-bcef-4bea-91e3-76d478b00443 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 248c7c62-b3e4-4101-9ef1-ff6a9f073fad CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 355ae8ac-3c18-4d58-a0f6-d3ee42273f01 CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dda4ef48-2d84-4408-8ef2-ffdaad11dbce CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ad0b279-f3b7-41d5-a950-eabb04acd3e2 CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7946dc9-c3bb-498a-9886-d8b3db1fdb56 CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b3de620-ebcc-4407-b20d-ba90efba69ba CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbaf2bb-0ed6-403a-ac65-f42e0c94cad1 CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 120d11f9-d109-4a3e-9cb8-af5368280db7 CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d852636-bd07-4648-b56d-4e08948ce8e8 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e34f35a-bb7c-41b1-94dd-4bec484281d1 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6e0b0b-8ce7-4712-b93e-dd8a68637748 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48197f7c-86a9-4b6e-88ab-dc05af15b5f8 CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ab1a4c-78d0-4a36-a852-95234c9bb725 CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e032fa8-45a4-479c-b9cd-b9bac9d636c8 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c13b52-5813-4b28-8a39-3eb417dc44b6 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 211755f8-47b9-4c65-ac78-89f5c2a16a0a CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc234ec-96b7-4270-bafd-d12cf03b69ae CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63ffc380-c55d-4a0b-9f3e-a4e5df4a7cfe CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2f9f63-e503-4c5f-ad3a-fd8748e2af01 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2995bb7-8fef-477e-8028-acf4767d4959 CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f8d79-09a4-4da0-a2a3-116f15ce7c9d CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aebcf219-f9b7-47a7-9e6d-3d89933c86f4 CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c9b38b-b676-4930-a383-60a6ca4d2417 CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d776287f-c78b-4e65-b584-3fc23f870778 CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018bcba6-4261-420c-93bd-202c92ed99f2 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbbbf4f3-9ee4-44c7-96ac-03ef65cafaaf CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca0f11d-a75b-4ce9-ba7b-77e5a224062b CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15609011-1020-4771-8c15-0bb9036c85d9 CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f328b5f-100f-4229-af85-85f4e4e61a06 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7121a79e-8bca-4124-aa15-f53bdb789d0d CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c788b1d-e861-456d-acdd-7abdc3a64fd2 CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4372bfb9-2dca-4266-bfab-be1b9e77ab65 CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c802d5b1-5526-438e-a51d-0b8467a3525b CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35c81293-d64b-4f96-9738-535638cbb123 CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6d9c3c-812f-41fa-a63a-7073931dee60 CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b2d379a-ff14-4698-bf8f-01fd656a72e6 CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d3a3338-8c02-4621-b477-795113e69de7 CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d05548-8010-4952-bbdd-d88be32a851e CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92ee2cfe-91e0-417e-a8d4-351a39eb4180 CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79fa35f0-afd7-445e-83e7-1c8a6dbbcaa1 CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c49164e8-d599-4e16-85cc-50374e8860ac CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50624ae9-e41d-40cf-b854-00a51758c081 CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fbf9a2b-3238-4943-80a7-22a337eb590c CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c72166d-27c1-4caf-8fe7-58878dea7798 CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e86477-2125-4439-8c66-eb2eb6e70fb6 CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c590a361-d262-476b-bf90-23425fc836d4 CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 499d00b6-8752-434d-87f8-fa34e20a58d0 CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161958d3-d985-48a8-b281-7813002af9e4 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f39101a-002a-4b09-9daf-5c6a27a43712 CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daec96a5-492a-4b15-84e7-d114c3eeca7f CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 962ae49f-f7e2-4864-bf7c-7a794228a3c0 CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aaf9b7f-d406-44ec-83b0-aec83e65722e CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b817de0-74cd-477b-91c9-d3c797540b6c CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a8e813-a44e-4d18-93b6-c6446da379df CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0572b8d8-0463-464e-8127-229999ca1adb CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b908aa-b8b5-4348-905b-b035310792c9 CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 125f4339-ae12-4932-bf0c-6c6715713f90 CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d105aa-0af8-40f3-b2e4-fc76ae76e87f CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 291c67b3-a252-4d23-b3da-20ab651b86df CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2954133-2513-4321-84f0-428078a1a6cb CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 344e317c-cf91-480d-9380-05b430f44550 CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef57c14-4aaf-4d24-bcd9-37fb5938bf60 CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ff80e5b-a20a-45af-8307-3676e0a5d603 CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2852796-ae99-4abb-a8b1-7e89dd44f800 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fcd421b-1038-404f-a599-5a9ad9f093f8 CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5317c4-a892-48f0-99a2-980f45fb7110 CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fda96655-160c-4b0f-b58e-35b5a09224fb CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45ce960-a585-4cb7-8b64-5b50e7bb73a6 CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49f0a824-b017-4e23-b7ba-b2e5a6ac60d4 CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72594965-1c7d-4717-b2e9-c274cb6cdabb CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 618fe27d-70b8-4aee-a2a1-4ea233e27058 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21894335-6865-4d94-a73a-c2fbdfc38a23 CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 581e5858-65ed-425b-b6f1-1a7675ad5a51 CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa52e66-6e47-4fc3-8a11-2b4b541728ef CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 486a4617-7980-420c-8cdb-c7ee01f8462d CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf60d868-ebb2-4a98-aa1c-8e95600644a3 CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb064e02-da42-4269-a815-c19f7736b31c CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c234a8e2-f5a0-4bb9-be59-ac9c50a8543e CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a15b7041-a9fb-4ece-963a-4cfe739750b6 CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9163ed58-c334-4b59-a428-3ebc148ef9f3 CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 606aee0b-d678-4cae-90ac-06391b0df04d CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3eb482a-2a39-48b6-bf6f-0355d29373d7 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d498473-4559-49d8-821d-458350fe41ce CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0c13cf-d90f-45a7-af3a-b8d57d3559bd CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 271b7c2a-34ff-47ef-a139-552c5514dbe7 CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9af8c15-4a2d-4182-8138-4b2e89efaf1a CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94c1a87a-6345-4ad8-a81b-86761f8432af CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f2dfd7-8a4c-4a4c-ad0f-0f8a23629e65 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2f1eba9-891d-4ff5-ab07-2075c330a478 CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205e2997-3b68-4889-8045-8b081486bffa CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61cdb9df-23ec-4493-820f-59ae699178da CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdfa431-38c9-423e-8355-14f1f34f55ad CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b767a84-46ea-40c7-bed4-db521190693b CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84745122-0481-4c49-a36a-24dc6ab91966 CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20e5e38a-765d-4536-97f5-f02c747f725b CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9053c9e-9cb2-4cd9-90be-c64fd90f261e CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49c7032a-084a-4621-ba37-6c081629b030 CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779ce1cf-77da-42cd-bc4f-a3cad1376f73 CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 408a55f3-9b90-434b-a1b1-e6e9e84a2f21 CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2af360b-f617-4aa9-9139-767f6798281d CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78783ce2-91d0-413d-ae68-5ccfc4e77483 CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c99768-5a4d-4610-b019-dc848b56a4fb CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6f2cfae-8a0d-415e-9bd7-1c29764a1f2f CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8240fe75-6f09-49fa-a0c1-1a00ea27a09f CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0e5a0d9-cdf7-41bb-b3e2-5d846a48c483 CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651796cc-38a0-4317-a6f8-a38498b2886d CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2071c517-c5fc-47c5-a010-bc1b77c03e2a CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6935902d-dfc4-43c6-a4f7-234261b90d69 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff47ab45-134d-4499-90c5-73884350b059 CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5e80c5-8e48-44e1-9468-005e91783b5b CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9cfa4bd-8bbe-490a-86a1-673d44874828 CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daee1d87-ff65-4efc-966e-34359c5f483b CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 035a778f-9922-46f1-b5c0-ddfbf372e156 CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b567db2-1998-4786-ad63-34b1fe033496 CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f597e15-0d5c-4228-a220-b191ca5628d1 CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 200a759a-3280-4c11-a3a4-0ab5d6aa803d CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d9202c0-ce2d-4da8-acea-fb3eee57de8b CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b07bb5-61c6-4ee5-bc3e-5207f3ab93be CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15d23a37-193a-4a47-a1bd-e244ee404bd7 CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64eac503-7a84-4162-93b1-031951455d7f CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4d32c27-809c-4472-8352-b91cc05ce520 CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5965c8f2-3270-4fb8-b354-603b168ba3ac CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08b8c8e7-9f6d-4bb5-b8df-8a92d5789aa4 CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20471c04-1229-44cc-9c1a-e8e299ac49de CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f52a385-01a0-42bb-81c0-a6bffcd0b78f CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebeb9af1-1e13-4282-b1ab-fd81c7d23c09 CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41a34d3e-b92f-4233-9ed7-a877ba67051d CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300d9b58-34dd-49d3-8c6b-4513bda092d0 CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9236faf6-1c36-4ca2-b774-4e5e2e80157a CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c50bd6-719f-4be6-a1e1-39a2dd01e783 CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca4e600f-8779-4b7b-98db-3791a972f902 CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ce95ac-e58f-4029-bd2d-8ba319b57f66 CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aadee875-59c3-4681-a794-0e59311a850c CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f2f87d-532d-4052-980f-2bc1289f972b CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d721f0e-081e-48fc-b9df-67f711b1e2ce CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2895564-953c-4490-bcf1-3bfdf787829f CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae65d8d1-0362-456e-ba65-7a92b8a93e47 CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee7ad6f-e64a-4462-b8c0-48fd99533149 CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc1a2925-f14b-4779-a2fe-6e7bc66b46fb CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63996fe1-7069-4fbf-a621-2c11b107c53a CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebcd0d67-6157-488c-9e05-275b6c6cd4d3 CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dece928-97af-49cc-9ecb-9e1f5f4dc6dd CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8557d9d-d769-483c-b2cb-474e5d36d421 CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0135e31-476c-43ef-a24d-7eef5c7416d8 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eee64efc-9bd1-439e-a02e-0450cca83cbd CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892719c2-3fd0-4448-9c8b-d6f68db92301 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f52e0481-f75b-4096-97f9-be139d3ce7d4 CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2594caa-5087-4e6d-9517-f6360896ce07 CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc298fff-389f-44e8-8f8c-e22839f6b8ae CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705cc9a6-d85d-46ce-9761-51405a54cacd CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 611000b4-06c3-4b0f-9267-7db8d47f2a76 CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda445a8-26a6-45a5-9de4-281fa2fb71b2 CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b79f747-cf05-43f0-b86c-bda7bcba2782 CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e95c51f-af1b-4cd6-85ef-2bdf265a3f0a CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd08d68e-81ab-4b5b-a68d-ca239f31ec57 CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d751b0-35e4-4dc1-b057-21690abc2fe4 CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41e08838-30d8-417b-bc03-236d64eb1cff CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0e7d56-953a-418e-bbf2-80a95d195337 CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4d96156-a5e4-4ff2-abb5-3c5643ce3804 CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594a2c6e-0ff1-4265-8778-b6d9813fb756 CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dda80a0-36cf-409b-a2b3-abb3541e813f CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d002b9-dd5a-43e7-a16f-6e9e7af77b6c CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ced57722-e363-46ff-b67a-146059d3f865 CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9449603e-9ba5-428d-8e15-9cd45150bc56 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbe579ab-07f4-4868-93dc-aed0c6cbdf32 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecb8481-7ac4-47ad-85cb-e3025ef75c47 CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62ee8812-233d-46e5-b1a0-4556b686fa60 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4ed3ec-af57-4c69-b388-17a1dedb779d CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f73e42e-c598-4523-9a8a-079eaeb7a46e CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b167ff-fbab-4a1a-809f-3c94e24b5885 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 191440d0-e24e-4de8-998f-e91a319074dd CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ace92b-7bed-460e-b67d-6ce39219c9c8 CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc4d72df-be3b-4a2b-a7c5-35d3230e9136 CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd20faba-26f2-4801-92ea-ed4e4168b98a CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6196da7-422b-4165-8593-41a1212d23a8 CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a3160b-6ecd-4f41-9c29-b0aa1557b07a CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd4ef8eb-7913-4e2d-8f20-69d598ace74f CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20111d4-c37c-4f61-bdbb-77fc6d1d8f32 CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59ac55e3-cd4e-453f-a687-256517437606 CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0331362-e85a-4e0c-9d53-4b5f5dd6695b CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60f15fd8-c8e6-4ecb-800f-ee3c6e57e929 CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42d383d-6026-4920-a265-958d7c78f5b5 CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 903e9cf9-acbe-4c9c-ad8a-d2fc2664ae89 CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bb02c7-a75f-43a5-a90a-b932bf06dc86 CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c84b5f58-cd23-4152-80c0-38663dd18b00 CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a88d7b-dde9-429f-be24-8267e27e8c27 CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6d3e412-ae8d-4b01-912c-db6da225b2ed CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96f8f24-9891-47fe-9823-1c6d9a0d3d2b CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc412ada-82c1-4043-8c1c-5c5cb805e54a CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def43ffb-d4d1-4d39-8768-cd806fd41d05 CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 068ddf70-e30d-41bb-a339-5164fcb8a9dc CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e45717-b19c-4220-9f18-2d79cf5e2829 CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 416fd293-b27a-4a9d-871f-b40e515cf23d CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef1e8f3-1346-4b88-925e-b3599111f577 CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fcc3341-4172-4b29-8dcf-be482240bab6 CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09827332-db12-4670-8afc-848eaaf0f8b7 CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0450a81e-ed47-4729-8c34-bc8c3c4c8f39 CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b16502-babd-40ac-a281-5ed8260c5a32 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91ee0095-8131-4330-ac8c-209a59369da2 CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42bbe46c-8062-4aef-bc9c-f751d33311e7 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0775a27-4918-4764-9a39-bb4aac63660c CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b09317-35fe-4dde-a931-4608d1d87f29 CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce53dec4-19b8-46e2-b857-6df346bd3c26 CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e5b1aa-05ee-4272-9650-2781ab6a624a CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf0b169-3a3f-4063-9365-3ab44caaa540 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93278acf-cdde-46c1-afb3-ae84680757b2 CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42318bda-adff-4865-841b-7a15fdd019a4 CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8461e836-74c3-453c-97c2-221ea012cf86 CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eaafe890-838f-47a1-9cea-e365cbefe8dc CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d5f728-10e5-4c1b-a765-00b264302312 CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2984dcb9-aff0-4573-b50e-8013a8f15d11 CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22975fc5-dc5b-4ac7-9e1c-97580015f14e CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 714e83c8-ec3c-489b-8105-7aae372450b7 CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96493cc1-6e0f-4964-b2f8-4021018997db CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e03946a-038e-4723-8c28-121ba3ddd054 CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6cfcb45-e40e-425d-9c2d-5fcf52e325c5 CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2705817-a128-4cf1-a5aa-cc73c1c6895e CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b564a918-99f3-4389-a42d-a4069aff2e57 CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68eb5663-2543-4d5f-989b-7c8147630f6c CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a11c2f3-3ce3-45ec-b4eb-9ce9844e0c8e CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ff54ef-6543-4bc4-8c9f-30483206d491 CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97d1d94-cc3c-4297-843a-3e226409d9bc CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea723370-5baa-447e-a552-90ae17d9a2f6 CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a010e8d9-3600-43af-99a3-89867a93dab0 CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d44e06c8-3f81-4416-b29d-cd6f09a5de50 CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db299e82-0c8f-478c-8008-00fad9107fe9 CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 452e22b0-9227-4edd-903d-f8ae854257f3 CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47680474-d71e-41f7-b26d-57adb6b24a9e CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4047efc1-2173-4c92-a039-d0dc5e7f5d5d CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd7b4a2-d875-4a7c-9d84-d9f6b69fad08 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a941bad-dbcc-4812-898d-94eb5eb34fda CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0533d47-4559-434c-aecd-45b87df11126 CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd213988-19f7-4a4e-af41-7c0a06d7c69b CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f83929-03f0-4040-85f3-bf552f80f912 CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36336ce1-73f4-4dba-8587-90af8c868abb CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21dd82a8-e861-4577-8ba0-9ba19ef6c338 CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01301b8b-20f2-4456-b4af-ff1b2945e411 CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b635942f-570c-4f66-a83a-0a34ba08825b CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a875a0e-9fcd-4147-88a3-85b997dc762c CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f93fd8-b774-491c-833f-975c5ee2bbc9 CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b922027d-198a-414d-b2b6-6419a914fecf CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64446d1-e8a2-40b8-b28e-5cabd95a2882 CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e8de590-0829-4a20-9091-cc12236b6641 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b32fb6-bcbf-49f2-afd9-2ba9a8225e87 CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c52545be-61c7-4d74-a799-7a2e6f6e210e CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f08da20b-8fdb-4107-b8cb-dedf25274e99 CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502a4113-05c3-41ad-b121-3cfe20365550 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0042196-b2f7-49e6-97fd-a72c89ea8258 CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7af3fb-cc1e-41f9-b79b-ab5f2e3693c3 CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf3fe54d-167c-4718-a391-1135253c50d5 CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad4d7dd-646a-46e0-89fe-f279a4b938fe CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e77b51a-40f8-4843-899c-c707bdd80186 CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52f47f5-e255-45b4-90ac-b867ac6af8ae CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae35762b-f5f3-4b6c-a132-b85fb39c3eb0 CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34b6f30-5199-4470-9b36-5f54a2dcb7d0 CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86557bf3-4936-4e47-8ceb-109a79cb463e CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e663229d-2507-4ba8-b13e-b7fc1c9b9cba CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cb47444-1f8f-476a-b0ae-c2bdf0903661 CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157a325c-9969-4930-a57f-8866f5654987 CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb0f2650-bf54-43d0-8643-636003992452 CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcce5877-51cb-4dee-8134-e62003729c25 CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6329a7c-0338-4d7b-b16a-5f9d1d24ea0a CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32979b6-c469-4dbe-9f80-9d6540bee764 CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen baba261f-f01b-45f5-92a8-e3b0fe752afc CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418d8429-41ef-48b7-84d0-64fa1a8c770f CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3582cd0-842a-48d3-9833-d39b239f2dc4 CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c30bde0-f1fb-4bff-b2a9-5d32c170febd CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c71005a-fa5b-4685-be65-cbab1e53cec6 CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f35a84c5-810e-4297-a167-89b284b75b70 CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c48b23a-cfb6-4b0c-b685-cec76a4c5555 CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fe662b-cb82-49b5-92c3-bc4e85ef51e8 CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3abc39fa-6f31-4fa9-b619-c947f91d83dd CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47757ff3-0d98-4e6e-bbfe-a5bcfca9ddba CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a5cea6-5d92-4eed-a56d-a630e16b4d89 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b831280-c1d3-4dfe-bc08-453b7e215afb CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe41114-f82e-4779-aeb3-7a37f45fdb0f CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06afbb1d-6a05-412d-84df-9b8bf8158ab7 CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b0d27f-0162-41ee-883b-71b94f67f9b4 CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1a31a2d-ac5e-4323-93f8-c9af7166125b CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e39602b-5404-4b36-98e6-4ed2416f5bd9 CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 071e8de2-ac94-4461-96d5-f70a1eaf8e0f CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9dec24-688e-480f-819a-020c710f9785 CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2852bae4-e889-4ab3-96bc-a9e1b6efeae1 CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea5be3c5-b947-4002-811d-1f8b8ab055a2 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf4fcff8-2fbb-44c4-9dd8-688e7384412a CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7c6257-f145-40d3-82ba-efb0f5654f90 CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3b3a2b9-185f-4996-ac2f-1a15765a7546 CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e3b73a-cc9e-42c4-a25b-a37d1fb788b6 CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98bd1989-b62e-470b-9a11-bd91e49236ff CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a0cfde-74f8-42e1-9589-93eab1fdc0f7 CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11479dfc-5797-4045-a9ab-76b095431dcd CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2dfa846-c6c6-4017-9d93-823efaea657b CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f83b290-b4c1-40c1-9b96-d38f370a4cb3 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132def30-d4c6-401b-97b9-2a1ec613a7fb CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c411a04-b50b-444e-b930-bef30564800f CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ea2174-2f5e-4ad6-b294-353b50498410 CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a32b0034-ca50-460f-a8b3-c42961889d63 CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea6ee5ed-97de-4535-8892-99243d6a533b CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f852073-692d-4c1a-93a3-c375c42ff639 CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44326fd0-3a1a-475a-af84-458339617b7e CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c341ae19-b22e-45d4-8d13-0ac4ae2c9b90 CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94de55c7-d5f9-4e24-97c5-4a3fca0d08ef CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a8e32cd-1516-443e-bc4d-238d45dec4ed CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06366165-d203-4e0b-8040-e26161bcb7ce CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec9f8fb9-d010-4696-ba14-fe1efca5ecbb CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abca8b0b-9867-4765-bbc3-e9917906dd38 CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5088696-5b80-475e-aa62-1ebde466a963 CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215fd4a9-3071-4af9-98f3-82fb205bf070 CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36f32ec6-8370-4461-99cc-92dc2b6d5abc CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d0971a-6f80-4eed-b3cb-5357da0d4a99 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5140e4ba-416d-475b-8ad6-14a8c579deee CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3e6892-e7cb-4404-a006-51d029c7b6c7 CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc369beb-a1d8-4365-b4f5-474177a7b954 CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defc8e61-a83d-43ff-afc2-0baac7967fe9 CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08d1e677-6251-4b4d-ab95-b801185c9acf CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12577a4-2be3-4ecd-9b2e-e716af758d88 CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5f39a21-4458-43d7-aa7b-252e8093981c CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a993629f-3aa7-46fa-a25b-ee82d0e66f63 CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a024ad4-50b2-45ab-a860-c77afbae864d CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b082c5cd-4cfa-4067-9923-f88ccff95e8f CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d653386-84a6-4119-9daf-b5ec92bc444d CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59edda88-b5d9-4b29-a858-c7fe3e264d6b CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 927eb2b8-d18b-4872-a1e4-8a4ca67b2542 CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623d93bf-7519-438d-909a-24c74c87096e CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d33d1a4e-2460-4fe7-96c1-280255e2ee6e CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6dd69f5-4d4e-428f-8492-5a3ee698035b CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34215a50-0692-4c6b-b351-a8d80c89a1e9 CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39b8d0b-d135-4cad-96a4-f7aee971ef95 CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90f8d555-75ae-413e-9e21-473e6fe85f3e CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f5595b-ae58-455c-bfb4-d78cd90407f7 CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b67ec532-3592-4c60-9450-56d51d79435c CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5401ead-5eda-4fc1-8882-794117ca2fc0 CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a34cf1af-90c5-46f3-b59f-194ef708d43a CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d482493c-c0f4-4bc2-8453-7cc062f4a5c1 CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b00711c7-9c89-4d07-bb76-701e56c21809 CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d3883b-0ad2-4072-ae54-09f311fc4697 CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b69e199c-6c4e-4967-9f21-f8ef87d03b0d CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c014cdb-dec3-4946-9819-d3482bc0dcb7 CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19f0f4fe-32d0-451f-945c-e7098def3cc9 CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ceaf36-6a6b-4bb3-bdde-f4bfd8c12e20 CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1046d9a6-92d6-4b5b-8cc9-d7460849f09d CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c449a2-1765-41b8-adb0-1f09f9bd4dd7 CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6af681f2-987d-44a4-9475-487a86207bff CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ba3dcb-dabc-4d1d-aabe-54daac94bfc4 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 385919f0-8861-498e-a8b1-d23d81b849a4 CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21288fc-ff9d-4bc3-b35e-96efc6397f82 CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03fbdf41-e8b9-4d65-a1c7-60bdf60ccfba CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9c40b8-071a-48ea-82a3-b6b1af6a58d3 CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a962452c-1b35-4c71-a369-5f7f203ba5d6 CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ce5f20-505d-46e8-afa6-5bddf5d344fc CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e510178-6685-4453-80e0-40f25caa332b CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65842b69-2277-41b4-a2af-fd4f32c921af CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55cb170a-4d65-4f40-90ee-ee4a9fefb161 CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafb1eac-7b54-460a-9e41-455965564d71 CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b30c8e0-319a-4425-bbcb-000aa0775060 CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f78ac9-7d53-4b2d-aa75-18d50e3c42cb CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8fb5f9e-0372-4c80-9a71-622d09a96ec1 CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600b7062-01b2-4b57-b1d7-02ae4139d227 CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ef79ad5-042a-4cdf-955a-8b3d3e4e9064 CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5c56ed-4853-41a0-8949-545d5428ba35 CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18c22fb9-8413-4860-af3d-498adb7fc43c CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c20f56a-dd37-4b05-881b-77659c5682e0 CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2c3edf1-45b3-497d-9a69-595c17c0fba4 CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ae5348-96a9-4ef9-9737-c7a2516a75f6 CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66dba39f-07f0-450e-8d8c-3a401fcf743b CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5196dbdd-6ef2-417c-98d9-fdf9c556f671 CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ba62887-fb99-438b-9e95-454eab5973f1 CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced56006-7502-4936-9ea4-4fd5375cd1a0 CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9df57e4a-14a2-475f-9516-3079a0d5cfaa CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52c7426-2dc6-4898-820f-5451b4fdeab6 CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79fa5b42-34c2-4a9d-8a68-f1d513975bc2 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1863765-4456-4256-b6ae-757e310a2b67 CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c498408-2bf0-4f52-9f1b-9cd0427aa31f CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f383bafb-36d9-4c92-929c-e2b8e88dd2fa CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 081476a9-f4f9-4952-b1d3-99990c5e27c2 CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d866d06a-78b6-454e-bcda-f6ffa6b6b1b7 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dd6b38e-0bc1-406e-94d1-b6e1f542b37a CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f895eb41-970e-46c8-acf2-7b9b1e002884 CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0d0f208-8845-4928-9152-fadf6a585756 CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22715a38-42ba-4602-b4b8-471b91908a24 CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 374e5333-501f-410e-afaa-a10338df0419 CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0d6de6-597f-41cc-bfdd-3cc3bcb156dd CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bc96305-1150-4b3e-90ae-8a08db801d84 CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddbd5d9-9aa6-4555-9ca9-589f664f4e6e CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29bf44d3-c73e-4730-b9fd-0cb7903a3954 CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5985b36-6b7c-4d64-9d41-4ba4bbb44ac6 CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a17b288-c3b2-450e-95a7-05053cb90832 CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85b1b44-864b-44bf-b62c-0049281a96e0 CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fa9bd3b-c64e-42fb-ae3d-fe563ebd225d CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a30fb2-d3fa-4682-95c5-63ca4cdeb761 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b54c22f4-f67b-4554-b9dc-8aca3261553f CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53154e2-dcf6-40be-8e30-8f4f5b21c698 CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8544073a-d149-48a0-809b-7170daf03f88 CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a328a5-83bc-47d0-bcff-0dfdd9c3dcb8 CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fc54a00-9f1d-4e37-a36f-bb6dc0e3130f CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c2705d-c2ed-4fe5-963c-fc233d477ff2 CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd203cda-931b-4780-9b4b-8f8904b6fa28 CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83112822-9ee2-48f7-8f15-efdc9686313c CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46248b6d-0043-43b2-b2cf-7efc3007532a CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373d8240-f71e-4ee4-badf-27dad76e6b51 CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0e9b1ca-7307-420d-b8fe-67d8e142bd6d CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6b37dd-5a74-443c-b0ca-96b937e9efab CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e1242d5-b249-4a59-a3b6-156964f20e8b CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208853d0-6369-4ee4-831d-f78ddcdf2ca3 CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a38e60a3-1379-47d8-9576-a5e8d0da3942 CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d4dcda-cf80-4beb-9766-dca81f2f92cc CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cc5f893-52b0-45d1-a7a3-f9df3470cfd7 CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3aaffb-dba5-4283-98f5-05f4e7ae9c25 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2808ee3-08b4-49c7-aaf4-f378cb9666ff CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746d3004-54f4-4300-aebe-ca62f44b093f CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 592cd233-107e-49ca-b14b-f6cf0da25365 CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56040936-1f53-4807-99f5-60408d273a62 CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a04772e9-08ab-4b4f-8345-7f4d36fefc76 CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef2c4ea-5395-4262-9ec1-911bf50a1466 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76ccc1c7-a8d1-423d-b5d6-00e74af8a19d CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cf6818-0a7c-42ee-8a9c-daaf83fda7d5 CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0c558a4-ef63-4162-832a-756cb618b4f6 CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952c4273-eec4-4658-bbc0-9d89377c8777 CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bead82d0-42e0-4cdf-9f03-5dbc22d9b979 CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be278d9-8c32-4e45-9667-501b107d8dfa CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07a016aa-f31f-4cd9-8ba4-dbd762110a0b CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be20617e-b70e-45ef-ad31-7dae91335618 CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbfbe459-6569-479d-ba14-81f4ab3950e1 CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f4928c-60dc-4b02-be25-1636a3f61b69 CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2768220e-f76c-44a1-b622-4ae1c7bf858d CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65370bb-d787-4ef8-a18d-41e00e2c7ddd CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40b2eb40-bd1c-46e6-b028-2988be57539d CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5cdf92-b097-420b-9cf5-b83405325ae7 CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9673a5b-2091-4ff0-b693-095925e34410 CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6c12e3-dc1d-44b3-8152-56398a150601 CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edd22e85-608e-41f2-80da-cbc5964d20ea CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f2d8ac-f7d8-4d01-951f-3efca7aca809 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8c78219-0351-46b3-8bb3-523fea7ba8c5 CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9acdf802-5462-40b8-b573-da00cb80106f CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78ac3385-e0ed-476f-876d-a5dd7b76f040 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd7e15e-d795-4197-a9e8-1d9cf79f0921 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90fe5b69-30e1-4ad5-bfba-69d40b95859d CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522b2ba9-3feb-4e44-a50c-bcac5e0cd55c CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a80a261-0620-4fc9-abfd-518db1fe9a4e CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c66fd7-ec9b-4e4f-be46-459f40fc0081 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b1d2798-bec9-434d-bdb2-fced10d51cdd CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc07fca0-1bc3-474a-9bca-32068014208e CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a605bf02-90c0-4761-80a7-e7db89a0d013 CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63591d76-2e10-4831-81c9-e0750ea045ab CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ba2f8e2-4ac6-47ba-8d2b-5041ffbaba1b CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b57ef3-abbb-41f5-81b2-7d76821ddfe0 CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23018691-5d19-4cbe-879f-c626fed48546 CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a1fb0a-28d9-44a0-9c37-1ae395aed347 CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17a28f09-4983-40cc-8a40-ab5320031af9 CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ed6a9d-75f3-4f01-9fb4-4752f3da3bc5 CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77b0bc0e-d3e7-4bb7-aaed-674d76cf53e2 CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57da573e-6948-45da-ab62-2067b6ec39ff CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b6eb2b3-8cce-429f-80ac-724b34f14cce CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182f9d0c-b851-401e-8eea-ec70492c1071 CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eaae1425-31fd-4fe3-b942-c73901333892 CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcb8c9f-3261-47d2-98a6-ca9be7ab1936 CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f795c2d1-08b6-4961-9e18-90cc4f13a60b CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd591bf5-88f3-4d94-9748-dc42f3e950c3 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 573017f7-8573-42bc-aadb-932aad8a4300 CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7a7ae0-b7b2-497d-b067-4de4438d5af4 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3226d2ec-25f4-4ad6-a67a-19b48d02e010 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 781bc16c-0de3-4e4f-afe4-332469a26557 CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c660084-f46f-4b70-9237-d28dec0bd7f2 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a504f1e-f323-442e-b5e7-e97f8dc4bd3f CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dabc155-174f-49a9-ae4e-0fe1c6433e43 CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb481251-8681-4d2a-9b55-95a947adc772 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c90bd9b2-d91c-4f0f-9dbe-5d24142620c0 CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbbc519-b09a-4df3-8280-79673c98753f CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecd33a43-5a1a-431b-b158-d9084f2ba17e CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61763afc-ff82-4152-a359-11f85c2c5a1c CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e960a40-8f0c-41e0-a30a-e74aa643cc28 CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc10ae7-c140-44a3-93ff-d3d130081a87 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 268ea691-d643-4aa6-8266-fedce3961428 CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf06bd8d-7500-4a3e-ab04-1910e1b90132 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3608b7a9-1e2c-47d8-9c45-c556bffddf1d CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ca8646-0ea3-4022-970e-30bb393412cd CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 895622c7-a18f-4d53-b6a4-cdae5f937632 CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ec8d31-9354-42b7-a98b-1f43c09d62eb CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a11ede7-0152-4421-8992-8e47ff616ce2 CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f177df57-0908-46d3-b042-2477780009c0 CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4485a3d9-bc1e-4d7e-9211-b4faa6cb9884 CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abba9441-0413-402b-8f85-7f586807a56a CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 176ec97a-15bf-443c-a411-a19e4eb76849 CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5320111a-f7c3-4865-8a0a-2b0a8602b0ad CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66e0dd4f-8e49-40ca-a6b4-3b77d40f3a96 CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd76a66-8e3f-4a96-919e-3fd2d191fbf5 CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 384b543e-c7af-41a1-82ba-7de2ac1bdf7f CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5620e7d5-68e0-4a89-8495-6b09795c80e6 CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49f44a5d-b95c-4b86-96c1-ffd13778d453 CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2607d9fb-980b-4cea-a2f4-7a3aee68791a CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 916a1420-9985-435b-bdf8-a07b4ff162ff CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682a7b41-2d15-42e8-89da-5b92ce937c1b CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6340ffd4-e3ea-43e8-a41e-bd5152ec2396 CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210457b3-2cc9-4560-90d9-f7ec18bb7c7a CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80677272-778c-4ff0-adc6-68348eef8dd2 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433aa812-c751-4203-992b-4c52af96c71f CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d88d6e03-d96b-4d3e-978b-1c55acc932b4 CAID:CA355945475 biolink:is_sequence_variant_of HGNC:10993 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb04c620-3447-4094-95ee-85f24dec74b3 CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d64ed3b6-57ea-4655-8f39-40cd2dca03e3 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c47c63-b9e9-4665-b931-f7eda7c47dc7 CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eab41247-a931-4736-a71d-3d5ff5a22afb CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d744537-c17a-4418-b3d5-2a68165a6923 CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03feef3b-bb32-46f5-8ac5-c642658ccf73 CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff042fe-93f1-45ef-9dbf-c67f72682547 CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 794b5a7e-4881-4ecd-827d-7e3af7aa02b4 CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8ce7c4-ceb7-46c1-861b-f615344568c2 CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a43043ed-b6fa-47e2-8bf1-16972c92f33e CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b08b72-be6a-45fd-a77a-6b388575eddd CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5e7557e-a073-490c-a9c2-66281b6a3805 CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cebc56-c2bf-4567-a2bc-59ca60521116 CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41113163-845e-43cb-9f23-0e4785ad4d12 CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbbdd562-93ec-4826-bcd9-41b7cc8fc542 CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3891f6ca-eeca-4878-a81a-0ad8e2594558 CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861592c8-28fa-4be1-b5b6-76af60d5b84e CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61ab24df-3982-423e-a9ee-3ce332ebbc6a CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90295832-9343-441f-96d3-3b6e99039854 CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95c0aec6-2ab2-4aca-8d83-9812d2248455 CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6d6ee6b-72e4-446e-a17f-288561ee9fd5 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff6c740d-833e-4748-983c-8b084d62db04 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03d0efab-032f-42be-a429-9af9103676e6 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c2045ae-db3b-4f16-8e18-75e5139b12a9 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85854b1d-2973-4686-9eaa-5752f3f0fe0d CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b701348b-aaed-4cb7-aca2-e6692aba8c2f CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32755327-6258-42ae-a0fa-42e458e3175a CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e52c3a7-37bb-4137-a6d8-ac3f3b4ef55a CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0762d362-33e6-4aea-a645-5739efcdd227 CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018d69ba-0dfd-46c1-8a14-b35b21896d57 CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9126bea9-716b-4988-aa4c-1d1d2d5e15d6 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14176cb6-7324-4f9c-8405-e192a71e5c46 CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6096d904-1f1c-4e73-83ce-006e3149558e CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311f7f43-07fc-4b33-9715-ae35066c27f2 CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ff60574-06ce-4aea-a6af-e89043b25d1e CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34894875-6caa-444e-bf1f-d42ed98e94e8 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23dd26bb-a2ed-4352-a899-34848a8ee305 CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0a771d-caee-4b56-8cd9-dbdf4b9cfb94 CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8e91edd-f57c-43dc-b059-dd9060a8e053 CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2550adfe-2ad0-48bb-9e68-7ba704762981 CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d1187fa-445a-42d9-8a8a-095ad4c85d8e CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df36f129-1eb3-49e9-9de8-1f45a64c83bf CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7e90f53-4427-48ba-b190-21b25bffff9d CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca63273-c434-4f3e-8223-a2fa756845a1 CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86582c2e-d3e9-4871-9fc9-576961a18ea6 CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2454483-92bf-4d5d-af01-aeea6f9814df CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d683d68-3ddc-43f4-ab66-9f3ab6407940 CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f234e0e9-0699-4ffe-aec6-288c3b86a7a3 CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 666a0660-2983-4fbd-8262-1328cac362a3 CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15dc4ac1-8116-4754-b23b-60f8186b22e5 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 698c942a-55f5-419b-b28b-ac0c37195291 CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4454dd61-3c57-4a0f-8b7d-a006ef3cb60d CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d6b2906-c013-4d9d-adbc-5fc838c7f965 CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc2d847-be95-4d58-98cd-21f1436762d7 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 592671d2-be5a-4e4a-a7c8-8ee7c93b95f1 CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840e6dc9-7279-4ee7-b94f-9e03a8f7d30d CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ca84ede-aef5-4801-a15b-b52f3fb6596a CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5073a9-83ec-4236-92c5-12c5590fdfeb CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 516bfcdb-d070-4bf8-925d-ae74f247af4b CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1c4422-f8d2-45da-b5ad-2ec04a6758d4 CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 621713cf-0cac-4320-a478-24fc20133483 CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad49367-3f3f-46ca-b787-660a8e46e842 CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24d16a40-3af3-418d-a2b3-0044deec092c CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef69588-ddd2-4ec1-ab49-8b8055cb06bf CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccec4048-9975-4235-b115-7ebf205c09aa CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4734aebe-2939-4431-8648-b618ebadab31 CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b047108-62d2-4f7c-89d6-3d6a2863e14c CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b54887-9a7c-43cb-82da-d416444b3ad9 CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33fa6a34-e98a-4084-80f3-342073a9c23f CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8cbc5a-81b1-4a5a-adf2-3c488d5d8338 CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9102f4bb-ab3f-4251-acb8-f27e8da9ff29 CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bba152-248a-4350-833c-901d2357580c CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1bcc6d10-ace5-4d0e-aa9d-f7370ef07b8d CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2ee3d9-30b3-49e2-ae98-fc458089c75a CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 680dac81-5116-481c-8f41-56b5f5e3bfc6 CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e7d94e-fa13-4c79-bac5-15be0fbfee44 CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84c2fad7-3199-490a-84cc-2cd7fc387806 CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25420d1-bc4d-4b9c-b79d-156c3f353ebc CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7caae125-3536-40b7-bcf5-ee15441ab2e7 CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fc991d-648a-4d8a-95c8-68a9ad3f65f6 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ad275df-8ffc-4d4c-9b20-ce2fd8315a13 CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e5cdaf-e967-497c-bb79-dd4cfd87155f CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 250d2714-7887-43ff-8a11-f673eaab830f CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5fecf29-bfbc-4ca0-92a5-780c3134a390 CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c36fc9e-804b-4a8a-962b-03d96e39ddbb CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e45bd9-7774-412d-8eec-4354a2e9b869 CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 568e1bc7-f8d2-418c-bf20-9e3f4d763314 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9969d0c9-1c8b-4547-bbba-e612b5911f40 CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36331de6-ed0b-4d9c-8601-358a4643f20c CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c5c4f6-6d13-4a8a-9bea-787c288c6049 CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1bc7f48-7c74-4074-a318-2e2893dbfa63 CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62cb6a4-ff27-47c7-904f-c5205eeddcae CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bd860bf-5568-4828-9a33-4e47647bd055 CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a9dcef-8a1b-494d-bd21-3a7168d6b698 CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0489f3f-3039-4a30-9f68-be33fc371100 CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9f73e4-413b-445b-95b5-4181071a4bb9 CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d6dcdda-f752-4151-a53e-45ae9976f287 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc83058-87b2-4853-9aa8-cbbc4d05a2b8 CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b881b07d-a867-45e4-9c2c-044275fa54d5 CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65d8b5c-a5eb-443d-8c4c-fde20549f651 CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dd53d61-11a9-40a7-a239-8b9ba540cf34 CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5670e644-ea85-451d-ac7c-c6d513aef8f8 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3aa9370e-94f0-4d9d-94cc-275842c5c7e6 CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f10be1e-091f-456e-89c1-ba67eccd104e CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 184f31b5-afea-40df-bbe3-beb98555fb71 CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379b949a-3112-4521-8439-86203386aca3 CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8981997-5922-4782-9a90-a842bad9dd28 CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5650fee0-180b-4f6d-a776-cd514b8bcd8c CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8450ecd4-07ba-47a8-8b49-27ff0bf73d94 CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ce70bc-5be1-4738-8714-91df06004f72 CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 260eee7f-9852-48c8-afb2-410929e3649c CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbebec0-920b-41b1-aed9-481a7651d361 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 560e859a-d52a-49bb-9be6-b5b6b865aa25 CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd248300-a88e-4f16-aed1-5a2e2fbd1358 CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c64c152-338c-41d7-bdfb-995fd95eda46 CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04bb51d2-4ff9-44fd-b916-55c2c1073c8b CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54819010-d7e6-4154-bfce-c2b387c71ee0 CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bd002a-8ffb-4e96-bf3b-b5aa29a82b16 CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2af4d52b-aa9a-4101-bc51-e69ce79ae52b CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090d066d-ce67-4fe2-896c-5d1f098eec8d CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20d3c2a8-36df-44b0-baf7-2dc08c407497 CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705c5574-3507-4370-95ca-38c6117b68bd CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 682cb75d-c071-4161-946e-0b6e62546c91 CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c2f914-c027-4e93-885d-563995f2fe45 CAID:CA341276980 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccb2ce67-ac87-49e4-b310-6add8bb9f63a CAID:CA341276980 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91156a34-9b84-4223-b7cd-3b5207056e9b CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e12424e7-070d-4723-b5c8-0332d773d5fe CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d804df80-c898-4824-aa2f-6e293fffed1c CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2274ed79-60d8-4843-be28-1fa76c5eb96d CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489a1c5a-7666-40f6-8b7d-54e012560c0a CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87cff9f0-1002-4a03-8cbc-ccba42d3bb53 CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd95ae4-fe02-49e4-8296-869647d72580 CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be7c5190-644c-43fe-abf2-d9f46b427d44 CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9f19ab-c691-4906-98bb-c57a30d267eb CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9db763b6-bc66-4a55-b4fb-93ef7add94a5 CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9518a14-5aa1-488e-b8f4-0b7aee5fa5cc CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02a32cc5-6078-4cea-825e-2bf9c22b043e CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4172845-f936-4d28-b634-52f20086f24d CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdf65aee-8088-42fc-8207-48fa76ab199c CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d3d9ca-a92f-414a-9114-2450b207e5b8 CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25f30b03-b31b-4126-bfdf-5f84cd8a7fe2 CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20eb75ca-d07c-4be7-a187-5b7863b96879 CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26fc464d-18be-42f2-805a-fac2f566843c CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084374ba-0633-44b9-9dbd-6133acac2ee2 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca3a210c-4980-4867-b59c-447aca4961b9 CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc98a63-3c89-4d88-a80d-63c7a5ff5f09 CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e964ccc-3a89-400d-90fc-23f95f8e4ceb CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac24b20-3e39-4e41-8a53-68e00d0f5482 CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e34e280d-a817-4dbc-8c7b-59556c59183d CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264091a6-409a-489e-9f4c-4fa74c52f1e5 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b89e1eb-4e61-4b51-934b-0c977ae30d49 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03949321-6133-4db6-9db6-994ecb27a389 CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a5a2b0e-619e-48d2-9e56-aa1cddc0ee61 CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e25d53-a78f-4db2-b113-4c0cd0dec1dc CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99420935-08a6-4f7d-9d1a-b25504bb2f8c CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e9dcfe-b342-4abd-b330-6c4ef68bdc14 CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92833aed-a66c-47d1-a5d2-1e5cf346ee76 CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e67c8d6-2963-4a64-bed1-2155874d6fa6 CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33932e47-7bf3-4edd-90ad-70caaa574c2c CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3041da-e145-4e95-93dd-dd047f6f520e CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7c2dff8-fd27-4734-9387-efb8433956bd CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84fb7ecf-9eb0-41b3-a8c6-98e2bd21ed91 CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen baa1ddca-f57a-4669-ac40-071432792cdc CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3c739a-8560-45ca-9e2c-5e71783837ef CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac7aa6c1-b8b5-4249-9d91-af1be39e7fa9 CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a27eb4-240e-49d9-bc59-26498a0502fd CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44bbc557-443f-4bcb-9874-516c97f8fc73 CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0edf06e3-c1db-4dda-b37b-3a56b1a0d6dc CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62c48042-b946-4fa0-9ad7-6f02d51c312f CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de07e2e-a67a-4acb-8bb7-64ff7d1e1139 CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c268533-c71c-4782-b766-2de497ae0399 CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 559cdaed-6b15-423c-85e0-1b215e9d13c2 CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86e62773-beaf-46a5-b32f-45c0efc416a2 CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e6909a-227d-4105-9f98-fd252059094c CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d7760be-3409-4c0c-8e9e-ef19f25dda77 CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6421f50-2943-4be0-802e-3706df0507dd CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c3f72f7-8a60-4230-99b5-9feac15c671c CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac33126-3325-4a3c-9de7-49d23990b820 CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd23bb7a-f1e3-47ed-9ebd-0d27032c2edc CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec721aec-6910-4ef3-99e3-c7ae5c0044ce CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c5166d3-e618-4620-8ecd-141bc1b8bc00 CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f15c6f-d57f-4cdf-9076-84bfa237d128 CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aa75cd1-3cc8-4bba-bf4b-10013b16a5a6 CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eabbe2a-5e5b-41fb-a322-08ec14596dde CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83c6ea95-79c0-46ae-b80f-50926838dc06 CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc02208b-9530-4176-92b6-c73bee7b4f8b CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 046828d5-53c6-43fa-a543-42593f3e2e18 CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 375f87ae-3a56-432f-88f6-ab1c63eea18f CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef6f750d-515e-4857-b113-82b7d096ffc6 CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937fb7f7-b642-4f1f-af82-4695957b4094 CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55c693cb-9f1c-45ea-81d5-cef743ac5ad6 CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8019641-0ef7-4b0f-8666-6848a69750e8 CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06b9255d-fc4e-426a-ae0c-bef81e54bb8c CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8665ba72-7b2b-44a1-81e6-6bb0b97c1f7b CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5573439-218d-4d3e-8a2e-5cc0922f1d0f CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d335659f-1fee-4528-8f4b-a8603d0d8305 CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2c26bf6-4ebf-4936-b03a-729a1689b0f2 CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4399c6d9-6cee-468b-90ff-0f4666323d0f CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97fd5a85-33d8-4a2d-83bf-bbfaf85a30b7 CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c016ba9-8dc1-4730-a823-1509f792f535 CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5d9c4ad-bba3-401f-b970-e59255c4deb5 CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb4fa69-217b-45ef-ada4-e25142b6dbe0 CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8daac668-90a9-468f-bdad-f3e2f52c1597 CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ae72f2-71c7-4be2-8619-7f8547e4342a CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07880998-878d-492c-9051-4e142f676323 CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039c09f5-e05e-417a-a5ca-646afa41895e CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0e55d64-d12c-4dec-8b7f-73bbd8438762 CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4bb2bf-5f14-4221-86f2-dc201ac8cb17 CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c326456-49f5-4ffc-910c-22698d9e120e CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155aa8c1-32aa-4190-a24e-5e33eabfa684 CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc54cb04-c889-4b4b-b1db-e56283d42bef CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea052c1a-c2f9-4183-a7d0-fa52125e35c1 CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea986fdb-f376-408f-b5e5-88560b1b9162 CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1589d5c4-cb20-4327-bec9-857397e92410 CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b355c258-9c27-4c29-a51f-247da6d2205f CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa09582-a954-42ef-b5dd-7bf375841070 CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d45122b-6cf2-49c4-82d2-6e67ddb341f3 CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059ebf2a-564c-49b1-9afb-45e6d974488b CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e60e5a45-e06b-4bc7-8985-757368f8dce9 CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fb6b97-3b58-499c-9fd5-eb2a49858de1 CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46b6858e-e216-42ea-a8a7-0bfaf3485887 CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b159880c-3241-4ac5-b57e-0699db7feef6 CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 363eb227-5043-414e-8a94-c4a354eec338 CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a069c16b-c194-4d51-a796-4582b9717381 CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5398114e-0432-42ae-9d0e-e8347e6fc61c CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1f91f8-8ace-4760-a71e-31c78e569e6e CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01242d29-b77b-44c8-8791-2ced8db215f3 CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2e36d2-4c9c-4104-bcf3-9273db68c339 CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d9cdb4e-f696-4b93-ba38-5ba848db9e0f CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41579d40-8278-440e-9404-6e9d02536eb0 CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2500995c-6116-4250-a9d0-9275ca18aab8 CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192d5b23-d4ea-4f8a-9e12-dfbdbee99ea0 CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 701ba07a-a266-455f-baa7-e6466934a8bc CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d6a73f0-c2a2-4848-8495-dce82f8d536e CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2079ea52-1665-45bb-9029-e46dd2cfd05e CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f738130-60cb-425c-a0d0-08401acf7819 CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c33c3c02-3c94-47b5-85d3-641fa131c221 CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f146e9-1f81-40f9-8a2f-678172c7a288 CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75865892-fb9a-478b-b36e-4074118d7697 CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4275c23a-98bc-439f-9c88-579c594de2aa CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 986e7696-4018-4f61-9221-08b19ec1a67d CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ef6283-5ce6-42e5-ab70-909f13888f06 CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8523d6de-4bcf-406c-9e38-9d6e4eda794e CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c191c0cc-aebd-4522-bf1f-e3bd4a151ecd CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3df8edd9-5904-4263-b0dd-7d517052f9f2 CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae24733-d497-455f-bc35-d46943179d23 CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 808ad9f3-c155-42c4-9ce5-7aba5fec60a5 CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9459c035-d8b4-4179-9bab-1b0334ab4c5f CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e1f9fc5-b64a-43e6-aaa1-8a45a9ba3a2f CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626a44ee-1964-416f-a36b-2f8cd71df84a CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bcba758-de14-411a-ad17-9fdd8b5add4d CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31229fa9-772e-449d-96ee-e0de5be6449c CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4054dd53-337f-48b4-be8a-f2be246d3f9b CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f05461-2b2e-468c-bc0a-e958fc6bd8d8 CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9325c8c7-e16b-4908-ad91-875d2e012e1a CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16184c41-c301-47d8-b9d7-baaea7592a1f CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df3913e1-2f1e-46d7-9cd9-3c6e408a3374 CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868b1791-aa36-4d1a-9b7e-7f88fa5f7e40 CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 473b298c-48a3-40ba-aa93-69ac818ce4c9 CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6b401b-8e7a-4407-91fa-e9e6ae2ec43f CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a71962d-1061-421e-8058-6cb31f6698fa CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea19e89e-42f0-4f5c-8c00-cc99ede915e8 CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79cb3751-e116-408d-8963-61fec8fbac09 CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ba7475-bc00-4e77-8fcd-c7c7251673a4 CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6245946e-fcfe-4f56-9647-81d9b2e125e2 CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2c1087-07ca-43c6-819e-bc48e97d8646 CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59d06e21-9889-4571-9a4c-a54044c967b8 CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6a20a6-9427-4d20-80bf-62665a85471d CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b43abf94-6f63-4d2d-8dfd-89553db7d6b2 CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0ec62f-ce7d-49ab-970b-f4785199cb20 CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d31a7c3a-dfa4-4ad1-9185-cf3e10894c39 CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531a320b-39aa-4e58-a6f0-6c591cc2cf29 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b80ba409-f4cf-48ef-aa5c-f3c509cc5fbe CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aad9727-cb9e-43a9-bfe6-6c6e88cc1a83 CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f575493-67fc-4d1e-b37a-964227f36d8f CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef88bfb8-3a7d-4c86-a7af-33508fc440e1 CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b297fad-bb7f-496d-9da1-c2409c93dc15 CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947b24ba-26a5-4a5c-b061-ec12b5ee458d CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28a64ad0-7950-48d1-a9d4-9eb0ad4fba6d CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b36290d-53c0-43fc-a721-a0405e57ff5b CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33621c0b-5398-4b6f-8b32-8a5aac04ed3e CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a16f20-839e-4338-a2c1-1f161bd40598 CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 665cbf79-da58-41e0-bfcf-3cfb5a4cf22d CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dab179f-9fdf-411a-af44-f0215b1fc30f CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec40e15b-9786-4bcf-a02f-2a967f33dbe8 CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4be016-2c6c-493b-8f4a-9d2bf568b275 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12a92103-f9c5-4517-9124-978e4caaf2a7 CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8179ddd-8c2d-4e05-9e7d-1fcf9abaf0b2 CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a0613af-e5cd-4988-ba89-1df08a159cdc CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6280e82-bb98-436d-acdd-46b3d4cf7557 CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e9eda7a-0475-4c8e-ae71-f67cc9591a53 CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a221e55-5cd7-4f39-b08a-a087cd838ebc CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1eb580fb-6bec-4a8a-9e91-2ad9f262e836 CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5162a7-15a0-4690-b824-a745effbe386 CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b774b71d-f73e-43c8-80b6-9b763a2deb87 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c6893f7-b950-4ff4-9c7c-0806ff531745 CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46e1b25c-22ac-474e-a2e9-96f672d1e455 CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ec9ce1-7c2b-415e-bbb5-4cd55a28dbfb CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94858704-9a35-4dba-9a17-91afd797b0a3 CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93aa336c-7e77-4dd6-aed5-52ec0c2fc07d CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57def7a4-1b45-427e-b934-4ba0a509933b CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9325d33-166e-46c3-96fb-0d413a5e939c CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 729dcfb9-d419-4e15-9ae2-37b8721e06a5 CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5926f9f-d721-4ad7-acd1-a679b00cdbc1 CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d11c7a8-7a11-44c9-a156-000b9704c364 CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e578a010-628c-48fa-8297-e934b9cc641b CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3b4ee00-51b9-4da3-9c41-e740541289f8 CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aabca6c-8a1b-4bad-8abd-e935ff9c685b CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd2fd27f-a462-4f7c-86bf-744d9b64c3f7 CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec77b886-3865-4181-b8be-ced2698a2064 CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6006835-1c94-4bac-9f9d-b88b7a627e47 CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c351e006-b707-4843-a616-f3466f3482e9 CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90e84375-a040-4339-9d07-b16b225c8465 CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b66719-91c8-4e00-bc0d-cdc95432eef7 CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 074bc74b-eb4f-4702-96c8-9752e98d5183 CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272ccba7-2fea-4242-8461-20bbd74fd2a7 CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9846ec44-7952-4ae4-ab19-e7c1633af6d1 CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33231300-736f-4607-b471-3d02127b3f9d CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e88be1ce-2e35-4488-850f-7cc39d74ab83 CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669f0b0c-4bb7-48f6-a37e-b559c3666dbe CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b156c56f-dd8b-4331-9715-2f84d242ec06 CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5d334b-7b6e-4857-8e96-891eb3b09270 CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ebd2063-e398-4c94-b90f-8fae93a54d8f CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32511352-c16d-45d0-a87a-7f1dcd188940 CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a9d3ced-9a4b-4b09-8675-75192cce5a9f CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1588692b-9438-47d6-ac56-fb9e25c615a8 CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21238279-335b-4597-900d-8d498988d045 CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa145f71-0c86-4942-b773-2b2983abf6a3 CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5404ede4-bf3a-4b6a-84ff-cb1102d6598c CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0412924d-6664-49c8-b6a5-db016bb12d1e CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39d36c25-315c-45d8-a532-03394ed61199 CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa5db26-f149-4d6e-ba39-29347f0e4b61 CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e3d8e3c-6782-4827-97c0-e16afaa7bbc5 CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed08357c-3449-4f37-8379-1c1a1e4b9430 CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23e17d00-e63a-4038-9f6c-c8ff9ccda404 CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d92c0a-b3e7-4980-970c-d0ef0d0af678 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 285c4077-4ad2-4848-90dd-78279929da58 CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a838c453-9c98-401c-a403-ed153f74f48f CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1e73297-2cf8-4e00-b791-144b3e085476 CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fef134-e926-4bad-8c2c-3fa2838277ce CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 209d5ff9-f937-47f0-8a08-271e46de90ee CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1242dc4b-af15-48f4-a3fa-e59d9cebd34a CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 704b437f-da1f-455f-9835-f7c8ccd6f488 CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68fa0da-f30c-4b1a-8f42-fb19be9904d4 CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8ceb859-8d3b-4b40-921d-73eb905ff3b0 CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d1ddc8-8d41-4df5-856b-c822d70c6af6 CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6b3ced7-a8e1-405b-a51a-1178f13621bb CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c5d275-4214-4ca4-8cc3-1d6277d973d8 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3de34b5-d3e5-44ab-a1b7-6316eb7dbf1d CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb34046-7057-4742-aa06-657d30f2b6d1 CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1326b0ba-c1bd-4bc4-819a-06df2445e99e CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f6b2ba-ec96-4f0b-8f09-8b38d793b5e4 CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c698c81c-de33-4c05-abf0-7a59b0187da2 CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d945cdac-b217-499d-b092-c1e4a05c6cf5 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6586b94a-5d82-4a66-a21f-2b7214838258 CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f107453-cf33-4f84-9815-0d871f412b97 CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 747eef90-93ed-4884-bed6-4e23f7240513 CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebe17bc-f3b6-4cd8-ad29-e4737505daa6 CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e59b68ad-7834-4dd7-b0ae-fe2331ad73f7 CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ab6f48-d4ef-484c-8b14-cb029c1acfcb CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 340a5229-43ed-46da-a8d2-6048e7f6af9a CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abb0585-276e-464f-b849-0177960a7fde CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eea7295-ee5e-429e-991a-c280766fa12a CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680d2f91-bc88-4e26-876e-1d6c5251628e CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 148c6652-0ae6-4e18-bc9e-65256ebe1dc0 CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6986c4f8-8665-4a75-b1b6-afc0352a099e CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5f0e365-8282-468b-9169-551ab9ce106f CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a787c7-8681-474c-bc0b-f46aecb8d7e0 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 396fe951-382b-4217-8982-5864628445a7 CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901d271e-26d1-4246-9df4-7026d68124c2 CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6ee4960-2cfc-4dad-a073-366f65a937f7 CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af196728-f58a-4c54-abc2-fe2386a1e699 CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f2da69b-752e-4778-bea2-0ed92ee23d5b CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482de113-c4ea-4f30-8ad9-dfd53a8f21cc CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1797fd11-e1bf-4022-bd21-0d15a3db2a24 CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30caea5-c7c9-48b4-b5d6-b65fde1a89b2 CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c009e060-f07d-4526-93bf-66e28301ab38 CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7155ab7-0d46-456f-9562-d10f04bbe975 CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a2ca23b-2bef-4ae9-ad59-b0e218a64c63 CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8a6cd2-d854-4db1-88c7-b4be92eb0a40 CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6b33ead-45fe-41af-aec2-4a114b21e401 CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4d9223-9771-411e-9904-f5dcbd0bf868 CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cdae0f46-fccf-493d-82ae-00a44b87927e CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6d039f-a52a-4a7a-9bfe-42a1d2c5e364 CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 590c39e8-6371-44df-b665-bfb23890dbdc CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86964932-3427-4c83-a016-c4fd4aae37c9 CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 901ebf6c-37ac-4924-a908-ce79cc654221 CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07349c50-975a-4176-9c67-4649458ca0ae CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7227cb45-834f-4c13-b51d-a4231f9f0b29 CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b76b3f8-9b14-4c08-b2b9-4c5f4eaedd78 CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae67194a-4bfc-4bf6-a9f7-7260f561bf74 CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617d6fa8-3f72-4c3d-a0ed-e02fa58118d5 CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca4891df-5e2e-4465-ba89-0427d7108904 CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5656961-dba7-44be-94f1-a45cfbeab2f6 CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fc90b14-9af4-4885-9e5c-8b4fc07dd469 CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e8e371-fc39-46d8-876b-d99ca8da7d44 CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fdd4fc1-e7a7-4b5b-92ea-d74523ab3963 CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48466f2c-1c2f-4139-a490-248126c5f1d8 CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb9be34b-7870-4636-b831-49ef56958cbd CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1357ed0c-c08b-4666-b162-ee96fbe96908 CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d8edd01-ed35-46b6-8a81-f8a0bcfa5f4a CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ebe3f3-c4ed-441b-93a6-db7a23480255 CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8fc69f8-4511-4ece-935d-1aff29f20750 CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fbb712-f26e-4b6f-9aa4-a0a43f182038 CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a093c2a-fb6c-41ee-a1fc-607a9c887054 CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6beac39b-ce3d-48c5-952a-511388f47074 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4968fa56-2f07-4673-a1ed-16244da74c42 CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87d308b-3f01-44e1-b1c4-1b3b5d150e07 CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb8331a2-79b3-4afd-b27d-b3a0b8b5efdc CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 143891ab-7df2-42f5-8725-82e0f1d47991 CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a0ea1e5-5803-407c-a148-0cceca04a13b CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6e6deb-6988-4df0-bcbd-08d36475fe15 CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c66d87a-1add-43dd-ac44-1d97fc51aedf CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc023ac-2d9e-48f6-8fe5-c382b190403f CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67f25c1e-d554-49d9-bb3b-e91c0178e483 CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289ed0cd-2287-4a4d-893b-61e57a057cc8 CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f42f7f9a-f4d4-4dfe-b59d-ee522a0c8612 CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3c241e-05c3-4b36-bfdf-52b2d8e70a06 CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f24a341d-6fba-4296-90e0-7f05766bc7b6 CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b1ae74-fc86-48d5-a875-05522a4703c5 CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5286b152-4132-48ef-8877-4e9bfc9b1065 CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5916d39-3a01-413e-b821-5be4ca0376cd CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea2dfb52-5d25-4838-80ba-12fa4d20bc11 CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6502f609-09fd-4e82-8983-664dfa863776 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9dc6f7c3-467d-4cb0-9334-513a495ed49e CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003780d5-6301-482d-98e5-24dc42b6d071 CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0285d6a-928d-437d-9a87-742053e1bf5b CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d10ee4-c491-4c04-83eb-f23cef7533ae CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f2553c3-e118-4f79-9f24-4137106e35c1 CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ea136f-0c94-4ab0-9349-fcf3da0ccf0d CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3bf4a91-27cc-4c53-8aaa-7e2c0ece6ee2 CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5769b-4649-4b64-8f3e-7d79b6678d3f CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e52499d-4c02-4a10-a787-cf0269178181 CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba53ec4e-d2da-486c-a1cd-a2358b316a29 CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90fa7f68-da1a-4731-b29a-7ca6ff426506 CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50a0769-08db-4592-b2e2-276d9b5338e9 CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 190fe117-a8dd-409f-a773-14d1e5b0ce41 CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14a8e2c-8674-4258-a813-cd45283d18eb CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9121bc48-5ae7-481d-ae19-9db35744035a CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51bb747d-a5ed-4ac8-ace1-59247406d4cb CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75382a5b-267e-4ecc-877c-5f34aba900b1 CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1410f66c-87ba-43b0-a0d4-11fb33757c95 CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2316ee5-3415-4184-bff9-5e83270a5547 CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb73089-bbdb-47e4-b487-cddae19eaceb CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7e89ac4-af31-4670-9cd4-f0552235bfc9 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f8dc99-ce1f-4ff8-9d32-a933b9bc1e9f CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 802b99ad-d86c-4482-abf6-9bff30558118 CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc033ec-255a-42cc-b55c-a7dcd6c95d59 CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 056b9cce-b823-4171-94ec-ade58ddf2e79 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2a6ce6-05db-4f73-a1fb-f2696d15a407 CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcb3d073-f99f-4297-8aaa-a0befb8a20bd CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1963ca6-3d77-4fcd-8941-e9db3f884ba4 CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc9854e1-82df-45d7-b36a-6fe6a603c904 CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79233c51-43ee-41a9-809b-b13c03eeb3a0 CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c04eb718-a957-41d2-8705-e0322c749faa CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4798abf4-84f6-4a33-900d-8ff8ab3f04d4 CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe77e56c-fcbe-4cb3-beaa-47ecc82a5099 CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99e389d-c3c4-488e-9317-bf1ea674d5c5 CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b18b8d58-5fe4-43f6-8279-15d966bf1ece CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796c26b5-827f-4f37-8c14-cf89730c0c63 CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2019752c-30a2-4a5c-973a-63a3d6272e07 CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28fcaa72-9ed2-4189-b097-0bb623ee6327 CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9104c4b2-0eb7-4bfe-94e7-b0abe61534ba CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0ff031-2e28-481d-a8c4-95d0a8dadd79 CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d845a512-c619-46b2-9c49-eef72ac12915 CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a02ade-18e6-4254-baff-5789da23137d CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ace2a530-e6f8-4a87-98b5-c0de903f009c CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62da5e22-fa9b-4968-b83c-34349ec5ca9a CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c3a75d0-650f-4ab5-9640-977714502d75 CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d671c40-e7be-4935-9d18-0206fcbe5625 CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d5d0084-5939-49f4-a1ae-4145df49b4d5 CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e993367-6a40-4a20-80b6-55dfdf9149a9 CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e930172-03d8-4574-8b3d-7dba1313e1a5 CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea591262-1f8a-4737-9b49-fab582503d39 CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd6cc996-dfb9-48c2-b428-94d99d405dfe CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eace6bf-22ad-40a9-8c1f-494a193a4ec8 CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c007e956-98a8-4fed-b14b-1b843ba51d0b CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ff9514-3d62-4657-82b8-361a7754feff CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e29a5f9b-3c6c-4b52-89d7-378bde36f014 CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf1badf-e66c-4f6e-a2ee-23ebcf3039e9 CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5764dc32-7c38-4048-a506-5a5ad3fbb90a CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d071a867-51cc-45f3-b7ce-f34dbe5d0d62 CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d4bdb51-5c06-4417-bcc1-41ce4835ad49 CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7d6f06-bd30-4a2e-afab-7f040c14f80a CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb6f0edd-5a42-495d-a28b-37f82d59e07b CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75794fc2-5d2a-42c5-8ee7-1bf9ff9e37ff CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3e34458-efed-4943-ae43-943b9e4d87b6 CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5313774-a0b7-4646-a59d-7e19852a927e CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b58cd4c0-8c66-4874-87ff-57fd97e3792a CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5497689-d1cb-4b37-982d-a2988ed71b9c CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4dcf56e-b959-44fe-b1c6-ef0a53233fd2 CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9228d267-6a41-4f0e-903c-5490ade61e4c CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e55b213-99ca-485a-8648-388bcb8e6273 CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f5b098-2c12-423f-b2cc-19c7b3e4a6be CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c907f01b-319d-4ed6-8ca5-7ea236a5c481 CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b1f420-a773-4bf5-af86-8fce202107a4 CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8005e94-0d99-4bb3-8bd2-6f94a9530727 CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b36ffa-82a1-4889-91d5-e1abb9b32cec CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a85b537-c199-41db-95f8-bc49fa2ad405 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f20b52-03e2-47a3-a9be-599be7bf2432 CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04d9823a-28a1-4112-b203-2c6172361fa5 CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9523db-a4a6-4b5e-8422-9db1d849854b CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae8979d5-e97a-4e96-b5e0-a64e068a450a CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c05c38-c820-4b51-9c39-c62cae75a8e9 CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebf495fa-193f-4fa6-a13d-ee13c0e40ec2 CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebead958-a731-4d49-99dd-98010e6fa50e CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a055a916-2487-478d-95ed-95925d1529c1 CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8009e84-2f57-4964-9e36-3c6e96594f4d CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41e2d2a5-5cbf-4aff-80f4-70a041dc29d4 CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3255668d-34ef-40e5-8c13-1fce88b12df7 CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b971a2d-e918-40b5-b6c8-69ea48567d08 CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0616466f-ec08-4107-a590-4a1bc043321d CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d59199fb-4af2-4b90-9361-622308932f25 CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07aee9e-3624-4936-8b6d-6ade44fab3f7 CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6484517-2ff3-4231-b89b-d38533bb3302 CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d07821-3039-480a-bd62-117e4fff1184 CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab215525-26c5-49ee-8845-c5703f5960f6 CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58121cd-36a6-4957-a2b1-35aecd589a29 CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 144afa0e-fd20-4805-b3be-0ffe4414a99b CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff139d7-8897-4474-85a6-97079b009f1b CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8df7ae4a-0b89-44b5-a6b8-b555f3241e96 CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba4a929-0c41-4964-8961-ab73a515fc92 CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3934d040-9d49-4f9a-ac2c-b217c876a739 CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbdd80c6-5548-4e81-9e98-d880aef358aa CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6637271-c96a-49bd-b5a9-14ad06d0bf6d CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff69a256-c186-4e3a-a7ce-dcbd57d80ec9 CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51620a1c-e87b-4f4c-99ac-6a40442fb36a CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eaca3fd-1bbe-40d6-a007-47dd78e4768c CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d808cdbb-7004-4e9c-acbe-8894bf6869a2 CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb74f79-12de-4fd9-b466-297196b0c72d CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03f47995-7048-49d1-869e-2b8b99ca3a13 CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31422e6e-3bf6-4b6b-b148-960f6c393cd6 CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d51618ec-0bb3-4d99-960a-60499b26e048 CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5c16af-ec63-4e07-a647-514fd7d50905 CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71a245e3-2694-44a2-b0fe-24b746ea5b56 CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd305bd4-d0da-43b1-8277-461360ce01df CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adfb754d-9d1a-4898-82aa-82c1a8b56d01 CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83aa4274-2b72-4ffc-88fd-1c6f23531ea9 CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c007c2c-8925-47e2-8376-b11b2af955cb CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1121e4-6b1a-4f8c-b184-4d72f0641202 CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f56c3db5-cd9c-460c-ad0f-966d34f35640 CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6663358f-28c8-4a8c-8068-b46fdb499f1d CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44052078-35f4-4083-919f-12a8badf14fc CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721eba80-d2e4-43e4-8c2b-06715a69d790 CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e95dacfe-cf3e-45a9-a4c1-99af4f60c8cd CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23bd8fd-027f-4ead-9d8d-32c1ae387c5e CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 856672d6-efd3-4eba-840e-e86eb02ea6b9 CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ef41d9-f558-4c8a-b498-72c5e1e1d3cc CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f28f84e2-9628-4c53-9fc4-b201f3560bc4 CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e621faea-fab6-4967-96f6-2bbc6593bcdd CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd52078-71ad-4923-b0db-f385856b8ae0 CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4d3d19-8d35-4b76-81e3-160d266b4573 CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40999ebb-e869-4991-b047-c332fb94823c CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d9adb7-e114-41c8-a59c-c411abfcb42c CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd610758-19d9-4f36-bfdd-a63d508f33ee CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca28eb0-fc00-4685-83de-59c7b5c5353d CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 807c6670-d174-446c-ad0e-422ada509731 CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a6fcc7f-60c1-4d71-a05e-9741f93d69d1 CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2358ec02-56dc-40bb-8019-67a530b34d5a CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba24419-abcf-44b9-959a-7e2d4f06e110 CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccfb93dd-520a-4203-af43-a1e380566445 CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf987b5f-58a6-4080-8d59-a0be8424f985 CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e5b42a7-bd16-43ec-97e6-8b743f242183 CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc2f7b2-2ddc-4a90-8028-068caa0e78e1 CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe63a6c4-aaf8-49d7-b4cb-4797cd3da5f3 CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8c51d6-5f3b-4fa6-9b0c-60461e7ca6f2 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b0ee53c-8736-4ad2-9fd6-160ab8c8ff75 CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ea00b7-5608-4ae1-a20a-f043c9b7e744 CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 847653ba-56e2-4441-90c5-24dea5781b58 CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad75946-5118-4847-81a0-12a7c7a26179 CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c283ada-08a4-4bfa-826d-e4499bd40644 CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8797c0-414a-4a6d-b7b5-5535627399c6 CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61528924-8fe0-4078-8a6d-e8ebd721d070 CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5591f0-d87e-4682-aa16-d0edd6d61015 CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30b44c45-31b3-410a-8a24-37b5c594fb76 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cefb885-b0a2-492f-b8a8-515eaeba0601 CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0d59ce1-039e-46d1-8339-3d68833b6543 CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d06dc5-6824-4552-ab45-ec993ffd078d CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 833ead3a-6de5-47ee-8ec1-24222d7f0a60 CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1e00f9-ce0b-432b-878d-195c1dde543b CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c20d6db7-62a2-4bd4-948b-c915cfa7ec51 CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb80242b-57a6-43e0-9a13-ddfa3ce6b012 CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc59b432-1066-4445-8f73-6d78b2496ad1 CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2f7008-21e5-4acc-9c4a-3ba557e8c6f2 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b5784b7-3f7e-4c31-a827-d85a27dc1459 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103ff661-eb4a-4274-acd6-4f4f99737ce1 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4067b6a-a5e1-4b42-80c5-2e651536e044 CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ab3c37-a19a-44f5-b68f-75f814f8e881 CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 545ab518-5646-4e95-89f6-3159a0d64a82 CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39640df4-49a5-4e1e-94b4-92b4bb4d5f47 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b338117-54a7-4f82-932c-3fe372efd5da CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec64677c-a1c9-4e63-a60b-9aa0962d506a CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 297b08c7-e26e-4ea4-8368-7436bb92183a CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196c7ff5-9c37-4f27-889d-869c411eaf7b CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f212393d-7adc-4b32-8ea2-ecdda919b95d CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b076bf-f0b9-439f-b38f-06cb6e660480 CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a17a9591-4a65-4845-9e7b-3dc250c4a975 CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2772855-67ac-40a5-b52c-f25162c3c76f CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d4646cd-f0d5-440c-91fc-602ae52958e8 CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6d6b28-3d2b-43a8-87ac-8b430276a4ea CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 670ed0cc-489a-4d6e-999a-dd0e1edc7b87 CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc2b7b3-3888-468c-9551-b80fa3465383 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abffc74d-d5e1-43d7-9b53-dcd0e75f2b08 CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba484f5-51e1-4980-998d-5b1cf9735729 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64c651bb-9b16-4b25-a0df-23e45325d920 CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dca636a-b21e-40b1-a80f-05ba29271d78 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8226688-9e90-4c8b-9d55-2fe391993a6a CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d2c784-780d-4f7e-b0eb-4bbaebd67471 CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4df3ab4a-e554-4807-b42e-0850a2f01a03 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce76f7e-71b1-4a87-8d98-7e035e9ed9dd CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e12b760e-18e3-4c35-9ecb-f1e1493772a7 CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b687e7c8-2a82-41aa-b58b-d8815585d367 CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f0868af-db8e-4f9f-9014-2b94174ce39c CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d087ea20-6a0b-4307-b4d7-64cbddfd42eb CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9b6d3c-0de1-4831-85e3-ee7582ac50a5 CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a0b6737-3a19-4ef1-b390-b97c83b3f62a CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9155ad36-b69e-4437-9e8f-9558e9f0125d CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f983ac8e-f626-45d5-b850-8d921f415f47 CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6eb0dc-8388-4b15-b3a8-5bbc00f1f43f CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5778344-f9a0-49d4-b35e-894595dc323c CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8b24b4-5d98-4d1a-aab6-1933b601d7c5 CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be13cb8f-f87c-4379-b426-b318e20559e5 CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d23fc5-92df-4f9c-a581-5848a3e36af0 CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dcd57fe-e739-4514-8404-5610c5a8460b CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb64abe-b7cb-4314-bcfd-bd515f6669d7 CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4401c2a-e77f-4f47-8e12-f5c4cae43c28 CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed756cc8-3939-49ea-a6bc-6a777b16b61b CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccec7edd-af79-4eaf-b6d5-ca784181a16a CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5448c8ed-bba2-4952-8330-3ebc778cae19 CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72603613-ea88-467b-9c81-5a7e2caf3fcf CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4606765d-30d7-45a7-9fbd-b87ce7d330d9 CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cedb70cc-3e26-4ac5-8011-aa42daa06d55 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 929f5deb-5b5b-4b98-985a-bfc32528ad7d CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbe66ac-7261-4a93-93d7-ee1b2438c834 CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4c8535f-6576-41cd-815c-33c11fb07bb0 CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66de90d-42b1-4d72-8e1f-1368f156a4f3 CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 754dadd6-437b-4a82-88ca-d49c39aed165 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17ff9a7-3171-42c8-b518-0645cf565b6b CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3693e2b-2d6e-4054-9cdc-4551ae59a8fc CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579ee488-bb12-4f86-bb91-bcf53c065321 CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64e935f1-d51e-4c81-8b50-76bc1eb66e04 CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3bc3d7-764b-4bdc-90a8-ff027f38d5bc CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a6193a0-6000-4b9d-b0c7-7f4d055dc2f6 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819b2f2a-e65d-4b9a-838f-894f54c423fa CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6549dcf5-b822-4500-a111-8e6ec003bd7a CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f2f351-e0b0-4fc1-8bf8-582b82d56754 CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1b5105f-e416-4a10-813d-f9b285d43f74 CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f5e12-c4d4-4966-90db-9554bb7807e8 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d16d1b72-a670-467a-8d9c-c4b6c7e7f8c4 CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c8bd24-ba30-4231-ae8b-3b91526ae9cc CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f7cdd81-76a8-440a-857b-b92136f207f7 CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7dba66-8868-4950-bfbf-27ae94c1e4a8 CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 756c06e9-364a-4c9a-94db-ea3943abee39 CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756898cb-5156-40f9-803e-553dcc6d81f2 CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c69dd87-3b41-42cc-be0c-5dde5b1408da CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e85ca1-20c7-4a2e-99e3-352c362116b5 CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 853aea50-49d5-47b5-8696-c9956a395a57 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549cd715-365f-4310-96a2-885f7bb7fac3 CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fbf914c-ef60-4d77-bc40-e4f1480e0de6 CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d1e32e-022a-4061-a1b6-fc6577650267 CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36bb871e-5749-4140-a7b1-40ab2329de93 CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c38f29-576c-466c-a203-2a8d4e5a7385 CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05cb95a4-6fc8-4aa1-a18a-8a0b90631942 CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb865ed9-223d-46b5-ab56-1226976a179e CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dca7d72-feaa-45ee-bc66-ac5dbf7de7ed CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ad6701-c871-4d7e-81bc-fe79c27e1bd1 CLINVAR:1933344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f88d8ed-45cd-4719-9115-acad9bde5f6e CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c335dc8e-2826-4bae-97f5-3e9c54cac157 CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b3e047c-5492-4c2f-a855-fd4d3fd6f42f CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69b75a35-b856-42b8-894f-6c2d5fe3f7c6 CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7a1b933-2e1d-48fa-8575-2a02a7ff4713 CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4dad43-68e2-4bca-b22d-23d27c04652c CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 014ba94f-dd97-41cc-92fa-d4136dc1a6f0 CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42348605-8c53-4d3a-9173-83a76794e929 CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0cc084d-582d-4c88-bee8-d125d1aae32b CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3138d581-1ab2-477e-915c-d2bedd021c8c CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 782498c5-3fb1-4b6d-aeb6-c4dfda7af81c CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b993ce28-afea-43f2-a0c0-2c1b705c7b9a CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6929e8b-e03e-4a45-a276-c246a89bfc49 CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9078ddfd-7374-4819-9235-1f6c16b4c928 CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd40efb6-1879-4437-b341-0864390cf9ef CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9028f150-9904-4c73-823c-e55f3d9fc63c CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30d1e457-9f42-4c09-a95a-c726c5f9ef34 CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4fde52-6c85-4456-a2cb-ec3dbfa864fe CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd7221c9-171e-4447-96b8-4613295c1d37 CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15a47c0-1d84-4e1c-aee5-7ab1ffc2212d CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4ff7018-35b4-4fe8-a02f-038a90702b24 CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8f6a92-474e-4c84-9573-860f8fc1d931 CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1534809c-5e60-4c9a-ac16-cdfcf9052744 CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e9e95a-ddd7-4d85-a247-5f632aacf816 CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c749a3fd-07fc-4937-9028-005d6fc86615 CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ded07d5-fee9-4e6c-95b9-b4ef2b0996ad CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 782ee956-1543-4312-ba0c-55cc8573f9b6 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a13f6cc-13de-4a54-83c4-00cc1fa02218 CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4a4d82c-a8f6-4304-a9b9-6a72747cbf15 CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91db9340-89e9-46e4-b542-4c6644a74044 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 973aa90b-93c9-40ec-a83e-27cc5b0fa725 CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0169905b-8b6d-40d7-a2ea-a5af796dfebd CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 862e3ad9-dd31-425a-9229-d0d6babee455 CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03808c9-13dd-41d4-a9c5-4c3e53747c1a CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d74c402-d68b-4153-b511-82c31fd4a893 CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8291ec5-27bb-46ce-bfad-1e04022d3b28 CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0749815-bc53-4a6c-bee2-c45ace417d3d CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e442417-5a3c-4e29-b724-99e1438a15ff CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 706eb055-2b68-4c1f-84f4-22663c97d87e CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b21597-1060-4b6f-9cd2-524f7e88003f CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 138a8f21-7a6f-4dad-95f9-7c2f7b1ce5c7 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen